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Article

Inheritance and variable expression in Rubinstein-Taybi syndrome.

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

Bartsch Oliver, Kress Wolfram, Kempf Olga, Lechno Stanislav, Haaf Thomas, Zechner Ulrich

Abstract excerpt

Familial Rubinstein-Taybi syndrome (RTS) is very rare. Here we report on the 6th and 7th case of inherited RTS. Family 1 presents with incomplete or mild RTS over three generations; a 13-year-old girl (proband 1) with mild but typical facial features and learning disabilities, her very mildly affected mother (proband 2), and the maternal grandmother (proband 3). Family 2 includes three females with classical RTS...

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Source

Identifiers

PMID: 20684013
DOI: 10.1002/ajmg.a.33598

Genes

CREBBP

Variants

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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