Associated Papers
Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele.
Itonaga T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021
Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.
Kolahdouz M et al.
Advanced Biomedical Research, 2016
High frequency of splice site mutation in 21-hydroxylase deficiency children.
Sharaf S et al.
Journal of Endocrinological Investigation, 2015
Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
Kırmızıbekmez H et al.
Case Reports in Pediatrics, 2015
Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche.
Ghizzoni L et al.
European Journal of Endocrinology, 2011
CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
Baş F et al.
Journal of Clinical Research in Pediatric Endocrinology, 2009
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