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
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DOI: 10.1186/s12920-021-01119-2
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… read more here.
Keywords: exome sequencing; cgh whole; coffin siris; siris syndrome ... See more keywords