Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Yanwei ShaDing MaNing ZhangXiaoli WeiWensheng LiuXiong WangPublished in: BMC medical genetics (2019)
Our results suggest that heterozygous c.124C > T, p.(Pro42Ser) in NOG is a novel mutation that causes human SYM1 phenotype.