Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Silvia Martin-Almedina¹, Kazim Ogmen^#¹, Ege Sackey^#¹, Dionysios Grigoriadis¹, Christina Karapouliou¹, Noeline Nadarajah¹, Cathrine Ebbing², Jenny Lord³, Rhiannon Mellis^{4

5}, Fanny Kortuem⁶, Mary Beth Dinulos^{7

8}, Cassandra Polun⁹, Sherri Bale¹⁰, Giles Atton¹, Alexandra Robinson^{1

11}, Hallvard Reigstad¹², Gunnar Houge¹³, Axel von der Wense¹⁴, Wolf-Henning Becker¹⁵, Steve Jeffery¹, Peter S Mortimer^{1

16}, Kristiana Gordon^{1

16}, Katherine S Josephs^{1

17}, Sarah Robart⁴, Mark D Kilby^{18

19}, Stephanie Vallee⁷, Jerome L Gorski⁹, Maja Hempel⁶, Siren Berland¹³, Sahar Mansour^{20

21}, Pia Ostergaard²²

Affiliations

¹ Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
² Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.
³ Wellcome Sanger Institute, Hinxton, UK.
⁴ North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
⁵ Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
⁶ Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
⁷ Departments of Pediatrics - Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.
⁸ Geisel School of Medicine at Dartmouth College, Hanover, NH, USA.
⁹ Department of Child Health, University of Missouri School of Medicine, Columbia, MO, USA.
¹⁰ GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.
¹¹ University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.
¹² Neonatal intensive care unit, Children's Department, Haukeland University Hospital, Bergen, Norway.
¹³ Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
¹⁴ Department of Neonatology and Paediatric Intensive Care, Altona Children's Hospital, Hamburg, Germany.
¹⁵ Elbe Center for Prenatal Medicine, Hamburg, Germany.
¹⁶ Dermatology & Lymphovascular Medicine, St George's Universities NHS Foundation Trust, London, UK.
¹⁷ South West Thames Regional Genetics Service, St George's NHS Foundation Trust, London, UK.
¹⁸ The Institute of Metabolism & Systems Research, College of Medical & Dental Sciences, University of Birmingham, Birmingham, UK.
¹⁹ West Midlands Fetal Medicine Centre, Birmingham Women's & Children's Foundation Trust, Birmingham, UK.
²⁰ Molecular and Clinical Sciences Institute, St George's University of London, London, UK. smansour@sgul.ac.uk.
²¹ South West Thames Regional Genetics Service, St George's NHS Foundation Trust, London, UK. smansour@sgul.ac.uk.
²² Molecular and Clinical Sciences Institute, St George's University of London, London, UK. posterga@sgul.ac.uek.

^# Contributed equally.

PMID: 34040196
PMCID: PMC8257488
DOI: 10.1038/s41436-021-01202-0

Published Erratum

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Silvia Martin-Almedina et al. Genet Med. 2021 Jul.

. 2021 Jul;23(7):1376-1377.

doi: 10.1038/s41436-021-01202-0.

Authors

Affiliations

¹ Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
² Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.
³ Wellcome Sanger Institute, Hinxton, UK.
⁴ North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
⁵ Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
⁶ Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
⁷ Departments of Pediatrics - Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.
⁸ Geisel School of Medicine at Dartmouth College, Hanover, NH, USA.
⁹ Department of Child Health, University of Missouri School of Medicine, Columbia, MO, USA.
¹⁰ GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.
¹¹ University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.
¹² Neonatal intensive care unit, Children's Department, Haukeland University Hospital, Bergen, Norway.
¹³ Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
¹⁴ Department of Neonatology and Paediatric Intensive Care, Altona Children's Hospital, Hamburg, Germany.
¹⁵ Elbe Center for Prenatal Medicine, Hamburg, Germany.
¹⁶ Dermatology & Lymphovascular Medicine, St George's Universities NHS Foundation Trust, London, UK.
¹⁷ South West Thames Regional Genetics Service, St George's NHS Foundation Trust, London, UK.
¹⁸ The Institute of Metabolism & Systems Research, College of Medical & Dental Sciences, University of Birmingham, Birmingham, UK.
¹⁹ West Midlands Fetal Medicine Centre, Birmingham Women's & Children's Foundation Trust, Birmingham, UK.
²⁰ Molecular and Clinical Sciences Institute, St George's University of London, London, UK. smansour@sgul.ac.uk.
²¹ South West Thames Regional Genetics Service, St George's NHS Foundation Trust, London, UK. smansour@sgul.ac.uk.
²² Molecular and Clinical Sciences Institute, St George's University of London, London, UK. posterga@sgul.ac.uek.

^# Contributed equally.

PMID: 34040196
PMCID: PMC8257488
DOI: 10.1038/s41436-021-01202-0

No abstract available

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Figures

**Fig. 1. Clinical findings in individuals with *EPHB4* variants.**
(a) Antenatal ultrasound scan (transverse plane) demonstrating bilateral pleural effusions at gestational week 30 + 4 in FH2:II.1. (b) Baby in the neonatal period with fetal hydrops (GLDUK:II.6). (c) Persistent peripheral lymphedema in the feet of FH5:II.2 at age 4 years. (d) Capillary malformation in the midline of the neck in VA1:II.2. (e) Multiple telangiectasia along the vermilion border of the upper lip and the mucous membrane of the lower lip in VA2:II.1 (inside boxed areas). (f) Early onset and extensive lower limb varicose veins in GLDUK:I.2. (g) GLDUK:II.4 with multiple telangiectasia with a propensity for the vermilion border of the lips (inside boxed area). (h) Dermatoscopic image of telangiectasia on the left cheek confirming the presence of dilated linear and branching capillary vessels in GLDUK:II.4.

See this image and copyright information in PMC

Erratum for

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Genet Med. 2021 Jul;23(7):1315-1324. doi: 10.1038/s41436-021-01136-7. Epub 2021 Apr 16. Genet Med. 2021. PMID: 33864021 Free PMC article.

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Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

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Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

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