TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations,Molecular Genetics & Genomic Medicine

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TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-08-10 , DOI: 10.1002/mgg3.1417
Chen Wang ₁ , Yufei Xu ₁ , Yanrong Qing ₁ , Ruen Yao ₁ , Niu Li ₁ , Xiumin Wang ₂ , Tingting Yu ₁ , Jian Wang ₁

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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.

更新日期：2020-10-12

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