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Article

Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.

American journal of medical genetics. Part A - 1 Apr 2021

Wild K Taylor, Nomakuchi Tomoki T, Sheppard Sarah E, Leavens Karla F, De León Diva D, Zackai Elaine H

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic syndrome characterized by distinct facial features, broad thumbs, growth restriction, microcephaly, intellectual disability, and developmental delay. Pathogenic variants in both CREBBP and EP300 have been associated with RSTS. Here we present a case of a female with hyperinsulinism and features consistent with RSTS, found to have a pathogenic...

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Share to E1A-Associated p300 Protein
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33442921
DOI: 10.1002/ajmg.a.62085
PMCID: PMC8621558

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.PMID 33442921Read ↗

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