Erin Finn Kimberly Kripps Christina Chambers Michele Rapp Naomi J L Meeks Fang Xu Wuyan Chen Austin A Larson Natalie J Nokoff
10.1177/23247096211014685
J Investig Med High Impact Case Rep
2021 Jan-Dec;9:23247096211014685.
star endocrinology genetics and molecular medicine lipoid congenital adrenal hyperplasia pediatrics
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/33966472/
Adrenal Hyperplasia, Congenital / genetics Adrenal Insufficiency Disorder of Sex Development, 46,XY
Adrenal Hyperplasia, Congenital / genetics Adrenal Insufficiency Disorder of Sex Development, 46,XY Case Reports Research Support, N.I.H., Extramural Humans Male Phosphoproteins Phosphoproteins Lipoid congenital adrenal hyperplasia
PMC8114284
33966472
A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia
2021