This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Case Reports

. 2009 Mar;149A(3):559-62.

doi: 10.1002/ajmg.a.32671.

Is this the Coffin-Siris syndrome or the BOD syndrome?

Ariel Brautbar¹, Judith Ragsdale, Marwan Shinawi

Affiliations

PMID: 19215055
DOI: 10.1002/ajmg.a.32671

Case Reports

Is this the Coffin-Siris syndrome or the BOD syndrome?

Ariel Brautbar et al. Am J Med Genet A. 2009 Mar.

. 2009 Mar;149A(3):559-62.

doi: 10.1002/ajmg.a.32671.

Authors

Ariel Brautbar¹, Judith Ragsdale, Marwan Shinawi

Affiliation

¹ Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas 77030, USA.

PMID: 19215055
DOI: 10.1002/ajmg.a.32671

No abstract available

PubMed Disclaimer

Similar articles

Autosomal dominant syndrome resembling Coffin-Siris syndrome.
Flynn MA, Milunsky JM. Flynn MA, et al. Am J Med Genet A. 2006 Jun 15;140(12):1326-30. doi: 10.1002/ajmg.a.31287. Am J Med Genet A. 2006. PMID: 16691594
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome.
Baban A, Moresco L, Divizia MT, Rossi A, Ravazzolo R, Lerone M, De Toni T. Baban A, et al. Am J Med Genet A. 2008 Feb 1;146A(3):384-8. doi: 10.1002/ajmg.a.32111. Am J Med Genet A. 2008. PMID: 18203175 No abstract available.
The Coffin-Siris syndrome.
Schinzel A. Schinzel A. Acta Paediatr Scand. 1979 May;68(3):449-52. doi: 10.1111/j.1651-2227.1979.tb05037.x. Acta Paediatr Scand. 1979. PMID: 155976
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D. Zweier C, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301. doi: 10.1002/ajmg.c.31408. Epub 2014 Aug 5. Am J Med Genet C Semin Med Genet. 2014. PMID: 25099957 Review.
[Coffin-Siris syndrome].
Ishii T. Ishii T. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):166-7. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057181 Review. Japanese. No abstract available.

See all similar articles

Cited by

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Marom R, et al. Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10. Hum Mutat. 2017. PMID: 28649782 Free PMC article.
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.
Nemani L, Barik R, Patnaik AN, Mishra RC, Rao AM, Kapur P. Nemani L, et al. Ann Pediatr Cardiol. 2014 Sep;7(3):221-6. doi: 10.4103/0974-2069.140859. Ann Pediatr Cardiol. 2014. PMID: 25298701 Free PMC article.
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment.
Celen C, Chuang JC, Luo X, Nijem N, Walker AK, Chen F, Zhang S, Chung AS, Nguyen LH, Nassour I, Budhipramono A, Sun X, Bok LA, McEntagart M, Gevers EF, Birnbaum SG, Eisch AJ, Powell CM, Ge WP, Santen GW, Chahrour M, Zhu H. Celen C, et al. Elife. 2017 Jul 11;6:e25730. doi: 10.7554/eLife.25730. Elife. 2017. PMID: 28695822 Free PMC article.
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.
Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. Schrier SA, et al. Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711679 Free PMC article.
Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.
Zhu J, Qiu J, Magrane G, Abedalthagafi M, Zanko A, Golabi M, Chehab FF. Zhu J, et al. PLoS One. 2012;7(12):e52353. doi: 10.1371/journal.pone.0052353. Epub 2012 Dec 27. PLoS One. 2012. PMID: 23300646 Free PMC article.

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Ovid Technologies, Inc.
- Wiley
Medical
- MedlinePlus Health Information
Molecular Biology Databases
- The Weizmann Institute of Science GeneCards and MalaCards databases