Whole exome sequencing indentifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpals 4 / 5 fusion
Authors: Aleksander Jamsheer, Tomasz Zemojtel, Mateusz Kolanczyk, Sigmar Stricker, Jochen Hecht, Peter Krawitz, Sandra Doelken, Renata Glazar, Magdalena Socha, Stefan Mundlos
Published in: Journal of Medical Genetics 2013
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q1