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

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

Abstract 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 hap...

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Bibliographic Details
Main Authors: Chen Wang, Yufei Xu, Yanrong Qing, Ruen Yao, Niu Li, Xiumin Wang, Tingting Yu, Jian Wang
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
novel mutation
novel phenotype
Tricho‐rhino‐phalangeal syndrome
TRPS1
Online Access:https://doi.org/10.1002/mgg3.1417

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