Title: 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
Journal: Journal of Medical Genetics 2013
Publication type: article
DOI: 10.1136/jmedgenet-2013-101659