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Article

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

American journal of medical genetics. Part A - 1 Jan 2010

Bartsch Oliver, Labonté Janette, Albrecht Beate, Wieczorek Dagmar, Lechno Stanislav, Zechner Ulrich, Haaf Thomas

Abstract excerpt

Rubinstein-Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20014264
DOI: 10.1002/ajmg.a.33153

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.PMID 20014264Read ↗

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