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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Dermatological Association; The Korean Society for Investigative Dermatology
2022
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| Materias: | |
| 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 |