Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge

Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant malformation caused by mutations involving the TRPS1 gene. Patients with TRPS exhibit distinctive craniofacial and skeletal abnormalities. This report presents three intra-familial cases with TRPS1 gene mutations that showed the ch...

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Bibliographic Details
Main Authors: Qi Huang, Cheng Jiang, Jiazhong Sun, Junli Xue, Victor Wei Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Pediatrics
Subjects:
tricho-Rhino-Phalangeal syndrome
TRPS1 gene
deletion mutation
short stature
sparse hair
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.990230/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.990230/full

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