SMARCE1, a Rare Cause of Coffin–Siris Syndrome: Clinical Description of Three Additional Cases

Coffin–Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (...

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Pubblicato in:Am J Med Genet A
Autori principali: Zarate, Yuri A., Bhoj, Elizabeth, Kaylor, Julie, Li, Dong, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Phadke, Shubha, Escobar, Luis, Irani, Afifa, Hakonarson, Hakon, Schrier Vergano, Samantha A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5870868/
https://ncbi.nlm.nih.gov/pubmed/27264197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37722
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