Atypical presentation and novel star protein gene mutation in a 46,XY female with lipoid congenital adrenal hyperplasia
Adv Exp Med Biol
.
2011:707:133-4.
doi: 10.1007/978-1-4419-8002-1_29.
Authors
Oksana Lekarev
1
,
Yves Morel
,
Maria I New
Affiliation
1
Division of Pediatric Endocrinology, Mount Sinai School of Medicine, New York, NY, USA. oksana.lekarev@mssm.edu
PMID:
21691971
DOI:
10.1007/978-1-4419-8002-1_29
No abstract available
MeSH terms
Adrenal Hyperplasia, Congenital / genetics*
Disorder of Sex Development, 46,XY / genetics*
Female
Humans
Mutation*
Phosphoproteins / genetics*
Substances
Phosphoproteins
steroidogenic acute regulatory protein