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Article

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.

Indian journal of pediatrics - 1 May 2016

Tamhankar Parag M, Merchant Rashid, Shah Ami

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PMID: 26374735
DOI: 10.1007/s12098-015-1891-3

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Related research

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Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.PMID 26374735Read ↗

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

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Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene.Semantic proximity Read ↗

Rubinstein-Taybi syndrome (CREBBP, EP300).Semantic proximity Read ↗

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGHSemantic proximity Read ↗

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

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.Semantic proximity Read ↗

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.Semantic proximity Read ↗

Rubinstein-Taybi syndrome in Chinese population with four novel mutations.Semantic proximity Read ↗

A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes.Semantic proximity Read ↗

Somatic and germ‐line mosaicism in Rubinstein–Taybi syndromeSemantic proximity Read ↗

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.Semantic proximity Read ↗

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