A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure

ConclusionWe report the first familial case of a novel homozygousNOBOX variant with an autosomal recessive mode of inheritance, thus allowing for a genetic diagnosis of primary ovarian failure.

Source: Endocrine - October 24, 2017 Category: Endocrinology Source Type: research