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

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 disability,...

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Detalles Bibliográficos
Autores principales: Lu, Guanting, Peng, Qiongling, Wu, Lianying, Zhang, Jian, Ma, Liya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8591803/
https://www.ncbi.nlm.nih.gov/pubmed/34775996
http://dx.doi.org/10.1186/s12920-021-01119-2

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