[A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia].

Objective: To investigate the clinical features and to identify the DAX-1 gene mutation in a Chinese kindred with X-linked adrenal hypoplasia congenital(AHC).

Methods: Clinical data and peripheral blood samples were obtained from the affected individuals and their relatives. The genomic DNA was isolated from whole blood.