NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.

Maris Laan Laura KasakKęstutis TiminskasMarina Grigorova Česlovas Venclovas Alexandre Renaux Tom Lenaerts Margus Punab

Published in: Clinical endocrinology (2020)

Detailed genetic profiling facilitates counselling and clinical management of the probands, and supports unaffected mutation carriers in the family for their reproductive decision making.

Keyphrases

decision making
genome wide
early onset
single cell
smoking cessation
hiv testing
dna methylation
gene expression
men who have sex with men