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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Detalles Bibliográficos
Autores principales: Huang, Qi, Jiang, Cheng, Sun, Jiazhong, Xue, Junli, Zhang, Victor Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716017/
https://www.ncbi.nlm.nih.gov/pubmed/36467473
http://dx.doi.org/10.3389/fped.2022.990230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716017/
https://www.ncbi.nlm.nih.gov/pubmed/36467473
http://dx.doi.org/10.3389/fped.2022.990230

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