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

Abstract 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....

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Autors principals:	Gerarda Cappuccio, Raffaella Brunetti‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2019-06-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	Coffin–Siris syndrome retinitis pigmentosa SMARCA4
Accés en línia:	https://doi.org/10.1002/mgg3.682
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