Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome
Masuda, Koji, Akiyama, Kazuhiro, Arakawa, Michiko, Nishi, Eriko, Kitazawa, Noritaka, Higuchi, Tsukasa, Katou, Yuki, Shirahige, Katsuhiko, Izumi, KosukeVolume:
6
Langue:
english
Journal:
Molecular Syndromology
DOI:
10.1159/000375542
Date:
March, 2015
Fichier:
PDF, 238 KB
english, 2015
File converter
Plus de résultats de recherche
More benefits 
