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

Fan, Lijun

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