Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

BACKGROUND: Coffin–Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1‐associated factor pathway including SMARCA4. METHODS:...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Cappuccio, Gerarda, Brunetti‐Pierri, Raffaella, Torella, Annalaura, Pinelli, Michele, Castello, Raffaele, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro, Simonelli, Francesca, Brunetti‐Pierri, Nicola
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2019
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565552/
https://ncbi.nlm.nih.gov/pubmed/30973214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.682
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