A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report

Variants of chromodomain helicase DNA binding protein 7 (CHD7) gene are commonly associated with Kallmann syndrome (KS) and account for 5 –6% of idiopathic hypogonadotropic hypogonadism (IHH) cases. Here we rep...
Source: BMC Endocrine Disorders - Category: Endocrinology Authors: Tags: Case report Source Type: research