Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.

Shixiong TianChaofeng TuXiao-Jin HeLanlan MengJiaxiong WangShuyan TangYang GaoChunyu LiuHuan WuYiling ZhouMingrong LvJing GuoLi JinYunxia CaoDongdong TangFeng Zhang Yue-Qiu Tan

Published in: Journal of medical genetics (2023)

can induce severe MMAF and NOA in humans.

Keyphrases

early onset
intellectual disability
drug induced
metabolic syndrome
adipose tissue
autism spectrum disorder