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

• Main Authors: Cong Ma (Author), Lv Liu (Author), Fang-Na Wang (Author), Hai-Shen Tian (Author), Yan Luo (Author), Rong Yu (Author), Liang-Liang Fan (Author), Ya-Li Li (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 least two types of proximal symphalangism have been identified in the clin...