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Article

Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings.

Clinical dysmorphology - 1 Jul 2017

Jagla Mateusz, Tomasik Tomasz B, Czyz Ola, Krol Mateusz, van Houdt Jeroen K J, Kwinta Przemko, Nowakowska Beata A

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Identifiers

PMID: 28027063
DOI: 10.1097/MCD.0000000000000164

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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 ↗

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.Semantic proximity Read ↗

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

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

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

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Semantic proximity Read ↗

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

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.Semantic proximity Read ↗

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

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Semantic proximity Read ↗

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