A Saudi Arabia family. The parents are first cousins. 3 daughters have primary amenorrhea, hypothyroidism and hypergonadotropic hypogonadism. Our study find a new MCM8 gene autosomal recessive mutatio
We collected a family in which the mother and daughter were CCD patients, and the father was normal. We performed whole-exome sequencing (WES) in the family to identify the underlying genetic mutation
