Observational Study

. 2021 Jun;185(6):1649-1665.

doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Sarah E Sheppard^{1

2}, Ian M Campbell^{1

2}, Margaret H Harr¹, Nina Gold³, Dong Li¹, Hans T Bjornsson^{4

5

6}, Julie S Cohen^{7

8}, Jill A Fahrner^{4

9}, Ali Fatemi^{7

10}, Jacqueline R Harris^{7

8}, Catherine Nowak¹¹, Cathy A Stevens¹², Katheryn Grand¹³, Margaret Au¹³, John M Graham Jr¹³, Pedro A Sanchez-Lara¹³, Miguel Del Campo¹⁴, Marilyn C Jones¹⁴, Omar Abdul-Rahman¹⁵, Fowzan S Alkuraya¹⁶, Jennifer A Bassetti¹⁷, Katherine Bergstrom¹⁷, Elizabeth Bhoj^{1

2

18}, Sarah Dugan¹⁹, Julie D Kaplan¹⁵, Nada Derar²⁰, Karen W Gripp²¹, Natalie Hauser²², A Micheil Innes^{23

24}, Beth Keena², Neslida Kodra²², Rebecca Miller²², Beverly Nelson²⁵, Malgorzata J Nowaczyk²⁶, Zuhair Rahbeeni²⁰, Shay Ben-Shachar²⁷, Joseph T Shieh²⁸, Anne Slavotinek²⁸, Andrew K Sobering²⁹, Mary-Alice Abbott³⁰, Dawn C Allain³¹, Louise Amlie-Wolf²¹, Ping Yee Billie Au^{23

24}, Emma Bedoukian², Geoffrey Beek³², James Barry^{33

34}, Janet Berg^{33

34}, Jonathan A Bernstein³⁵, Cheryl Cytrynbaum³⁶, Brian Hon-Yin Chung³⁷, Sarah Donoghue², Naghmeh Dorrani^{38

39}, Alison Eaton⁴⁰, Josue A Flores-Daboub¹⁹, Holly Dubbs⁴¹, Carolyn A Felix⁴², Chin-To Fong⁴³, Jasmine Lee Fong Fung³⁷, Balram Gangaram²⁸, Amy Goldstein², Rotem Greenberg²⁷, Thoa K Ha²⁸, Joseph Hersh⁴⁴, Kosuke Izumi², Staci Kallish⁴⁵, Elijah Kravets³⁵, Pui-Yan Kwok²⁸, Rebekah K Jobling³⁶, Amy E Knight Johnson⁴⁶, Jessica Kushner⁴⁷, Bo Hoon Lee⁴⁸, Brooke Levin⁴⁹, Kristin Lindstrom⁵⁰, Kandamurugu Manickam³¹, Rebecca Mardach¹⁴, Elizabeth McCormick², D Ross McLeod²³, Frank D Mentch¹, Kelly Minks⁴⁸, Colleen Muraresku², Stanley F Nelson^{39

51}, Patrizia Porazzi⁵², Pavel N Pichurin⁵³, Nina N Powell-Hamilton²¹, Zoe Powis⁵⁴, Alyssa Ritter², Caleb Rogers⁴⁷, Luis Rohena^{33

34}, Carey Ronspies¹⁵, Audrey Schroeder⁴³, Zornitza Stark^{55

56}, Lois Starr¹⁵, Joan Stoler⁵⁷, Pim Suwannarat⁵⁸, Milen Velinov⁵⁹, Rosanna Weksberg³⁶, Yael Wilnai⁶⁰, Neda Zadeh⁶¹, Dina J Zand⁶², Marni J Falk^{2

18}, Hakon Hakonarson^{1

2

18}, Elaine H Zackai^{2

18}, Fabiola Quintero-Rivera^{37

63}

Affiliations

¹ Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
² Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
³ Mass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA.
⁴ Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁵ Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
⁶ Landspitali University Hospital, Iceland.
⁷ Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
⁸ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁹ Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.
¹⁰ Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
¹¹ Division of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA.
¹² Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.
¹³ Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.
¹⁴ Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.
¹⁵ Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.
¹⁶ Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
¹⁷ Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.
¹⁸ Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹⁹ Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.
²⁰ Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
²¹ Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
²² Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.
²³ Department of Medical Genetics, University of Calgary, Calgary, Canada.
²⁴ Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.
²⁵ Department of Clinical Skills, St. George's University, True Blue, Grenada.
²⁶ McMaster University, Hamilton, Canada.
²⁷ Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
²⁸ Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
²⁹ Department of Biochemistry, St. George's University, True Blue, Grenada.
³⁰ Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA.
³¹ Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
³² Children's Hospital of Minnesota, Minneapolis, Minnesota, USA.
³³ Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.
³⁴ Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.
³⁵ Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
³⁶ Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
³⁷ Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.
³⁸ Department of Pediatrics, University of California Los Angeles, California, Los Angeles, USA.
³⁹ UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.
⁴⁰ Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
⁴¹ Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
⁴² Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
⁴³ Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
⁴⁴ Weisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA.
⁴⁵ Division of Translational Medicine and Human Genetics Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
⁴⁶ Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
⁴⁷ Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.
⁴⁸ Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
⁴⁹ MD Anderson Cancer Center at Cooper, Cooper University Health Care, Camden, New Jersey, USA.
⁵⁰ Phoenix Children's Hospital, Phoenix, Arizona, USA.
⁵¹ Department of Human Genetics, Center for Duchenne Muscular Dystrophy University of California Los Angeles, California, Los Angeles, USA.
⁵² Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
⁵³ Clinical Genomics Center, University of California Los Angeles, Los Angeles, California, USA.
⁵⁴ Quest Diagnostics Kalamzoo, Kalamzoo, Michigan, USA.
⁵⁵ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
⁵⁶ Department of Paediatrics, University of Melbourne, Melbourne, Australia.
⁵⁷ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
⁵⁸ Mid-Atlantic Permanente Medical Group, Rockville, Maryland, USA.
⁵⁹ NYS Institute for Basic Research in developmental Disabilities, Staten Island, New York, USA.
⁶⁰ Genetic Institute, Sourasky Medical Center, Te-Aviv, Tel Aviv, Israel.
⁶¹ Genetics Center and CHOC Children's Hospital, Orange, California, USA.
⁶² Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA.
⁶³ Department of Pathology and Laboratory Medicine, University of California Los Angeles, California, Los Angeles, USA.

PMID: 33783954
PMCID: PMC8631250
DOI: 10.1002/ajmg.a.62124

Observational Study

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Sarah E Sheppard et al. Am J Med Genet A. 2021 Jun.

. 2021 Jun;185(6):1649-1665.

doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30.

Authors

Affiliations

¹ Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
² Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
³ Mass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA.
⁴ Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁵ Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
⁶ Landspitali University Hospital, Iceland.
⁷ Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
⁸ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁹ Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.
¹⁰ Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
¹¹ Division of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA.
¹² Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.
¹³ Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.
¹⁴ Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.
¹⁵ Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.
¹⁶ Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
¹⁷ Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.
¹⁸ Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹⁹ Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.
²⁰ Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
²¹ Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
²² Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.
²³ Department of Medical Genetics, University of Calgary, Calgary, Canada.
²⁴ Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.
²⁵ Department of Clinical Skills, St. George's University, True Blue, Grenada.
²⁶ McMaster University, Hamilton, Canada.
²⁷ Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
²⁸ Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
²⁹ Department of Biochemistry, St. George's University, True Blue, Grenada.
³⁰ Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA.
³¹ Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
³² Children's Hospital of Minnesota, Minneapolis, Minnesota, USA.
³³ Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.
³⁴ Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.
³⁵ Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
³⁶ Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
³⁷ Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.
³⁸ Department of Pediatrics, University of California Los Angeles, California, Los Angeles, USA.
³⁹ UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.
⁴⁰ Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
⁴¹ Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
⁴² Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
⁴³ Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
⁴⁴ Weisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA.
⁴⁵ Division of Translational Medicine and Human Genetics Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
⁴⁶ Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.
⁴⁷ Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.
⁴⁸ Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
⁴⁹ MD Anderson Cancer Center at Cooper, Cooper University Health Care, Camden, New Jersey, USA.
⁵⁰ Phoenix Children's Hospital, Phoenix, Arizona, USA.
⁵¹ Department of Human Genetics, Center for Duchenne Muscular Dystrophy University of California Los Angeles, California, Los Angeles, USA.
⁵² Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
⁵³ Clinical Genomics Center, University of California Los Angeles, Los Angeles, California, USA.
⁵⁴ Quest Diagnostics Kalamzoo, Kalamzoo, Michigan, USA.
⁵⁵ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
⁵⁶ Department of Paediatrics, University of Melbourne, Melbourne, Australia.
⁵⁷ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
⁵⁸ Mid-Atlantic Permanente Medical Group, Rockville, Maryland, USA.
⁵⁹ NYS Institute for Basic Research in developmental Disabilities, Staten Island, New York, USA.
⁶⁰ Genetic Institute, Sourasky Medical Center, Te-Aviv, Tel Aviv, Israel.
⁶¹ Genetics Center and CHOC Children's Hospital, Orange, California, USA.
⁶² Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA.
⁶³ Department of Pathology and Laboratory Medicine, University of California Los Angeles, California, Los Angeles, USA.

PMID: 33783954
PMCID: PMC8631250
DOI: 10.1002/ajmg.a.62124

Erratum in

Corrigendum Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021;185A(6):1649-1665. Doi:10.1002/ajmg.a.62124".
[No authors listed] [No authors listed] Am J Med Genet A. 2022 Mar;188(3):1015. doi: 10.1002/ajmg.a.62567. Epub 2021 Nov 11. Am J Med Genet A. 2022. PMID: 34761848 No abstract available.

Abstract

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.

Keywords: KMT2A; MLL1; Wiedemann-Steiner syndrome; hypertrichosis; syndromic intellectual disability; syndromic short stature.

PubMed Disclaimer

Conflict of interest statement

CONFLICT OF INTEREST

The authors have no conflicts of interest to declare.

Figures

**FIGURE 1**
*KMT2A* variants in this study. (a). The variants were mapped to NM_001197104 using MutationMapper (Cerami et al., 2012). Green variants are missense, black variants are truncating, red variant is indel, and purple variant is other. (b, c, d) tables demonstrating the method to detect variant, the type, and its inheritance. Of the 82 variants, 69 were novel variants of which three occurred at a previously reported location. Thirteen variants were previously reported

**FIGURE 2**
Characteristic features. (a) Front and side photographs of individuals with WSS. (b) Familial groups with WSS. Three Caucasian siblings. Caucasian father and son. Mother and daughter of African descent. Caucasian father and daughter. (c) WSS individuals as they age. Black boxes denote different individuals. Range of hypertrichosis on (d) elbows and knees and (e) backs. (f) Hands. (g) Feet. (h) Facial features include lateral eyebrow flare (42/88), ptosis (40/93), down-slanted palpebral fissures (51/103), up-slanted palpebral fissures (7/103), vertically narrow palpebral fissures (70/101), hypertelorism (63/94), hypotelorism (4/94), wide nasal bridge (64/101), broad or bulbous nasal tip (63/99), exaggerated cupid's bow upper lip (21/97), thin upper vermillion border (47/96), bifid uvula (7/89), and posteriorly rotated ears (28/99). (i) Features of hypertrichosis include thick eyebrows (77/102), long eyelashes (72/101), hypertrichosis cubiti (57/100), hypertrichosis back (68/101), and hypertrichosis lower limbs (44/97)

**FIGURE 3**
Clinical features of participants, including growth parameter analysis. (a). Birth weight. the reported birth weight percentile is presented with the fill color of the histogram bar indicating the gender of the participant. (b) Growth parameters over time by gender. Each point indicates a participant's growth parameter at the most recent examination. Participants older than 20 years of age at the most recent evaluation were excluded. the black lines indicate in each panel indicate the 1st, 5th, 25th, 50th, 75th, 95th, and 99th percentiles. (c) Clinical features. Each box denotes a single participant. The colored boxes denote affected, the dark gray boxes denote unaffected, the light gray boxes indicate data not available. For quantification, see Table S5

**FIGURE 4**
Developmental milestones and IQ. (a) Motor milestones. (b) Speech milestones. (c) IQ distribution

See this image and copyright information in PMC

References

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Affiliations

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Authors

Affiliations

Erratum in

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Substances

Supplementary concepts

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Research Materials