article_metadata: Lakshmi Vasudevan Rajesh Joshi Dhanjit Kumar Das Sudha Rao Daksha Sanghavi Shiny Babu Parag M Tamhankar
article_metadata: 10.4274/Jcrpe.927
article_metadata: J Clin Res Pediatr Endocrinol
article_metadata: 2013;5(2):121-4.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/23748066/
article_metadata: Adrenal Hyperplasia, Congenital / genetics Disorder of Sex Development, 46,XY / genetics Mutation Phosphoproteins / genetics
article_metadata: 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
article_metadata: PMC3701918
article_metadata: 23748066
article_metadata: Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India
article_metadata: 2013