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Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Molecular genetics & genomic medicine - 1 Oct 2021

Choi Naye, Kim Hwa Young, Lim Byung Chan, Chae Jong-Hee, Kim Soo Yeon, Ko Jung Min

Abstract excerpt

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. RSTS patients showed intellectual disability and health problems such as short stature, ophthalmologic abnormalities, congenital heart defects, genitourinary defects, and variable types of tumors....

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Source

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Identifiers

PMID: 34427995
DOI: 10.1002/mgg3.1791
PMCID: PMC8580098

Genes

CREBBP
EP300

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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