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

Francoise ParisDelphine FlattersSandrine CaburetBérangère LegoisNadège ServantHervé LefebvreCharles SultanReiner A Veitia

Published in: Clinical endocrinology (2017)

This report increases the number of described homozygous DHH variants and highlights the importance of advanced bioinformatic tools to better understand the pathogenicity of human variants.

Keyphrases

molecular dynamics simulations
copy number
endothelial cells
molecular docking
early onset
pluripotent stem cells
biofilm formation
gene expression
candida albicans