Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing

Abstract Background Coffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. CSS represents a small group of intellectual dis...

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Autores principales: Guanting Lu, Qiongling Peng, Lianying Wu, Jian Zhang, Liya Ma
Formato: article
Lenguaje:EN
Publicado: BMC 2021
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Acceso en línea:https://doaj.org/article/8fc446d3d2d541438e35afb0700a2402
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