Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children
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DOI: 10.1186/s13023-019-1283-2
Abstract: BackgroundAntley-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 reports of ABS caused by PORD in… read more here.
Keywords: abs caused; p450 oxidoreductase; bixler syndrome; chinese children ... See more keywords