A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family wit...

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Detalles Bibliográficos
Autores principales: Fang, Xiaokai, Yang, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989904/
https://www.ncbi.nlm.nih.gov/pubmed/35450306
http://dx.doi.org/10.5021/ad.2022.34.2.139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989904/
https://www.ncbi.nlm.nih.gov/pubmed/35450306
http://dx.doi.org/10.5021/ad.2022.34.2.139

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