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Article

Germline mosaicism in Rubinstein-Taybi syndrome.

Gene - 15 Apr 2013

Tajir Mariam, Fergelot Patricia, Lancelot Guenaelle, Elalaoui Siham Chafai, Arveiler Benoit, Lacombe Didier, Sefiani Abdelaziz

Abstract excerpt

Rubinstein-Taybi syndrome is an autosomal dominant disorder with multiple congenital anomalies and genetic heterogeneity. Clinical manifestations include mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and characteristic facial features. Mutations in the gene encoding the transcriptional coactivator CREB-binding protein (CREBBP; OMIM 600140) on chromosome 16p13, account...

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Source

Identifiers

PMID: 23352794
DOI: 10.1016/j.gene.2012.12.105

Genes

CREBBP

Variants

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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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