Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF).
Wensheng LiuYanwei ShaYang LiLibin MeiShaobin LinXianjing HuangJinhua LuLu DingShuangbo KongZhong-Xian LuPublished in: Journal of medical genetics (2019)
Our experimental findings indicate that loss-of-function mutations in the SPEF2 gene can cause the MMAF phenotype in human.