Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children

Antley-Bixler syndrome (ABS) caused by P450 oxidoreductase deficiency (PORD) is a congenital adrenal hyperplasia with skeletal malformations and disordered sex development in both sexes. There have been no rep...

Source: Orphanet Journal of Rare Diseases - December 30, 2019 Category: Internal Medicine Authors: Lijun Fan, Xiaoya Ren, Yanning Song, Chang Su, Junfen Fu and Chunxiu Gong Tags: Research Source Type: research