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Article

CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Feb 2020

Shen Jie, Zhao Mingyi, Zeng Zhihui, He Wei, Chen Chunyuan

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS), also known as broad thumb-great toe syndrome or broad digits syndrome, is a rare autosomal dominant genetic disease. The main features of the patients are craniofacial dysmorphisms, skeletal malformations, and delay of growth and psychomotor development. In this case, the child has a typical RSTS specific face and growth retardation, with atypical indirect inguinalhemia. A...

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Identifiers

PMID: 32386048
DOI: 10.11817/j.issn.1672-7347.2020.180770

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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