Chargement en cours...

Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome

BACKGROUND: Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics ar...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Conte, Chiara, D'Apice, Maria Rosaria, Rinaldi, Fabrizio, Gambardella, Stefano, Sangiuolo, Federica, Novelli, Giuseppe
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2011
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3199234/
https://ncbi.nlm.nih.gov/pubmed/21951868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-125
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!