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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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Bibliografski detalji
Izdano u:BMC Med Genet
Glavni autori: Smaili, W., Elalaoui, S. Chafai, Meier, S., Zerkaoui, M., Sefiani, A., Heinimann, K.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5415804/
https://ncbi.nlm.nih.gov/pubmed/28468609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0413-8
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