An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

BACKGROUND: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable...

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Detalles Bibliográficos
Autores principales: Trippella, Giulia, Lionetti, Paolo, Naldini, Sara, Peluso, Francesca, Monica, Matteo Della, Stagi, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245908/
https://www.ncbi.nlm.nih.gov/pubmed/30458885
http://dx.doi.org/10.1186/s13052-018-0580-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245908/
https://www.ncbi.nlm.nih.gov/pubmed/30458885
http://dx.doi.org/10.1186/s13052-018-0580-z

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