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Article

Rubinstein-Taybi syndrome in Chinese population with four novel mutations.

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

Yu Pui Tak, Luk Ho-Ming, Lo Ivan F M

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS, OMIM*180849) is a rare autosomal dominant disorder, characterized by distinctive facial features, short stature, broad and often angulated thumbs and halluces, with occasional congenital anomalies. Characteristic facial dysmorphic features include downslanting palpebral fissures, low hanging columella. RSTS is caused by pathogenic variants in two ubiquitously expressed and highly...

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PMID: 33063428
DOI: 10.1002/ajmg.a.61922

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