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Article

Rubinstein-Taybi syndrome in first cousins with different de novo mutations.

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

Balci Sevim, Ali Ergün Mehmet, Lechno Stanislav, Bartsch Oliver

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Identifiers

PMID: 20358623
DOI: 10.1002/ajmg.a.33259

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Related research

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Rubinstein-Taybi syndrome in first cousins with different de novo mutations.PMID 20358623Read ↗

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.Semantic proximity Read ↗

Monozygotic twins concordant for Rubinstein-Taybi syndrome and implications for genetic counseling.Semantic proximity Read ↗

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

A case report on Rubinsein-Taybi syndrome associated with a de novo CREBBP gene mutation.Semantic proximity Read ↗

Clinical Phenotype and Genetic Characteristics of 5 Cases with Rubinstein‑Taybi SyndromeSemantic proximity Read ↗

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.Semantic proximity Read ↗

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoireSemantic proximity Read ↗

[Rubinstein-Taybi syndrome. Description of a case].Semantic proximity Read ↗

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case ReportSemantic proximity Read ↗

Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings.Semantic proximity Read ↗

New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case reportSemantic proximity Read ↗

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

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