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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Guanting Lu, Qiongling Peng, Lianying Wu, Jian Zhang, Liya Ma
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2021-11-01
Col·lecció:	BMC Medical Genomics
Matèries:	Haploinsufficiency ARID1B Coffin–Siris syndrome SWI/SNF complex Microdeletion Loss-of-function
Accés en línia:	https://doi.org/10.1186/s12920-021-01119-2
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!