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Article

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.

Molecular genetics & genomic medicine - 1 Oct 2020

Wang Chen, Xu Yufei, Qing Yanrong, Yao Ruen, Li Niu, Wang Xiumin, Yu Tingting, Wang Jian

Abstract excerpt

BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, a pear-shaped nose, and cone-shaped epiphyses. This condition is caused by haploinsufficiency or dominant-negative effect of the TRPS1 gene. METHODS: In this study, we analyzed the clinical and genetic...

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Identifiers

PMID: 33073934
DOI: 10.1002/mgg3.1417
PMCID: PMC7549555

Genes

TRPS1

Variants

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