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

Internet

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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