Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome()

Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in the EFNB1 gene and characterized by distinctive craniofacial and digital malformations. In contrast with most X-linked traits, female patients with CFNS display a more severe phenotype than males. In this report, the cl...

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Détails bibliographiques
Publié dans:Meta Gene
Auteurs principaux: Chacon-Camacho, Oscar F., Arce-Gonzalez, Rocio, Villegas-Ruiz, Vanessa, Pelcastre-Luna, Erika, Uría-Gómez, Conrado E., Granillo-Alvarez, Mariella, Zenteno, Juan C.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2013
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287793/
https://ncbi.nlm.nih.gov/pubmed/25606386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2013.11.001
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