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Article

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

European journal of human genetics : EJHG - 1 Nov 2016

Dauwerse Johannes G, van Belzen Martine, van Haeringen Arie, van Santen Gijs, van de Lans Christian, Rahikkala Elisa, Garavelli Livia, Breuning Martijn, Hennekam Raoul, Peters Dorien

Abstract excerpt

Whole-exome sequencing of a patient with intellectual disability and without recognisable phenotype yielded a mutation in the intron20 splice donor site of CREBBP. Mutations at different positions within the same intron20 splice donor site were observed in three patients clinically suspected as having Rubinstein-Taybi syndrome (RSTS). All mutations were de novo and likely disease-causing. To investigate a...

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Identifiers

PMID: 27165009
DOI: 10.1038/ejhg.2016.47
PMCID: PMC5110047

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.PMID 27165009Read ↗

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