A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature

The role of growth hormone (GH) and its therapeutic supplementation in the trichorhinophalangeal syndrome type I (TRPS I) is not well delineated. TRPS I is a rare congenital syndrome, characterized by craniofacial and skeletal malformations including short stature, sparse, thin scalp hair and latera...

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Detalles Bibliográficos
Autores principales: Merjaneh, Lina, Parks, John S, Muir, Andrew B, Fadoju, Doris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148676/
https://www.ncbi.nlm.nih.gov/pubmed/25177352
http://dx.doi.org/10.1186/1687-9856-2014-16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4148676/
https://www.ncbi.nlm.nih.gov/pubmed/25177352
http://dx.doi.org/10.1186/1687-9856-2014-16

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