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Article

Phenotype and genotype in Nicolaides-Baraitser syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2014

Sousa Sérgio B, Hennekam Raoul C

Abstract excerpt

Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. We analyzed 61 molecularly confirmed cases, including all previously reported patients (n = 47) and 14 additional unpublished...

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Source

Identifiers

PMID: 25169058
DOI: 10.1002/ajmg.c.31409

Genes

SMARCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotype and genotype in Nicolaides-Baraitser syndrome.PMID 25169058Read ↗

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