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Article

Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function.

The Pan African medical journal - 1 Jan 2021

Kovela Rakesh Krishna, Qureshi Mohammad Irshad, Manakandathil Ansar, Sinha Mukesh Kumar, Dinesh Neethu, Harjpal Pallavi

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations, delay in the development of height and weight, distinctive facial features, broad and sometimes angulated thumbs and halluces, short stature, and intellectual impairment that is mild to extreme. Current literature emphasizes mainly medical, dental, and psychiatric issues in RSTS...

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Identifiers

PMID: 34909074
DOI: 10.11604/pamj.2021.40.85.31240
PMCID: PMC8607943

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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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