Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at lea...

Source: BMC Medical Genetics - November 6, 2019 Category: Genetics & Stem Cells Authors: Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan and Ya-Li Li Tags: Case report Source Type: research