Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additi...

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Detalles Bibliográficos
Autores principales: Dias, Catarina, Isidoro, Lara, Santos, Mafalda, Santos, Helena, Marques, Jorge Sales
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652099/
https://www.ncbi.nlm.nih.gov/pubmed/23691375
http://dx.doi.org/10.1155/2013/748057

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652099/
https://www.ncbi.nlm.nih.gov/pubmed/23691375
http://dx.doi.org/10.1155/2013/748057

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