Ahlee Kim Masanobu Fujimoto Vivian Hwa Philippe Backeljauw Andrew Dauber
10.1159/000487638
Horm Res Paediatr
2018;89(3):205-210.
angelman syndrome cyp11a1 genetics p450 side-chain cleavage primary adrenal insufficiency sex reversal
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/29566378/
Adrenal Insufficiency / congenital Angelman Syndrome / genetics Cholesterol Side-Chain Cleavage Enzyme / genetics Sex Chromosome Disorders of Sex Development / genetics Uniparental Disomy
Adrenal Insufficiency / congenital Angelman Syndrome / genetics Cholesterol Side-Chain Cleavage Enzyme / genetics Sex Chromosome Disorders of Sex Development / genetics Uniparental Disomy Case Reports Adrenal Insufficiency / genetics Female Humans Infant Cholesterol Side-Chain Cleavage Enzyme Adrenal Insufficiency, Congenital
PMC5906135
29566378
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1
2018