Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children. [electronic resource]
- Orphanet journal of rare diseases 12 2019
- 299 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1750-1172
10.1186/s13023-019-1283-2 doi
Adolescent Adrenal Hyperplasia, Congenital--enzymology Antley-Bixler Syndrome Phenotype--enzymology Asian People Child Child, Preschool Cohort Studies Cytochrome P-450 Enzyme System--deficiency Female Genotype Humans Infant Male Phenotype