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A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency...

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Detalles Bibliográficos
Autores principales:	Smaili, W., Elalaoui, S. Chafai, Meier, S., Zerkaoui, M., Sefiani, A., Heinimann, K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415804/ https://www.ncbi.nlm.nih.gov/pubmed/28468609 http://dx.doi.org/10.1186/s12881-017-0413-8

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