A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.


OBJECTIVE Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family. DESIGN We performed a whole-exome sequencing of two 46,XY female individuals… (More)
DOI: 10.1111/cen.13420