Lakshmi Vasudevan Rajesh Joshi Dhanjit Kumar Das Sudha Rao Daksha Sanghavi Shiny Babu Parag M Tamhankar
10.4274/Jcrpe.927
J Clin Res Pediatr Endocrinol
2013;5(2):121-4.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23748066/
Adrenal Hyperplasia, Congenital / genetics Disorder of Sex Development, 46,XY / genetics Mutation Phosphoproteins / genetics
Adrenal Hyperplasia, Congenital / genetics Disorder of Sex Development, 46,XY / genetics Mutation Phosphoproteins / genetics Case Reports Adrenal Hyperplasia, Congenital / diagnosis Amino Acid Sequence Base Sequence Codon, Nonsense DNA Mutational Analysis Disorder of Sex Development, 46,XY / diagnosis Female Frameshift Mutation Humans India Infant Infant, Newborn Karyotype Male Mutation, Missense Pregnancy Prenatal Diagnosis Codon, Nonsense Phosphoproteins steroidogenic acute regulatory protein Lipoid congenital adrenal hyperplasia
PMC3701918
23748066
Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India
2013