Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia
JN Cruz, KS da Costa, TAA de Carvalho… - Journal of …, 2020 - Taylor & Francis
Congenital adrenal hyperplasia is an inherited autosomal recessive disorder related to
deficient cortisol synthesis. The deficiency of steroid 21-hydroxylase (cytochrome P450 …
deficient cortisol synthesis. The deficiency of steroid 21-hydroxylase (cytochrome P450 …
[HTML][HTML] CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum
D Zangene, H Moravej, H Ilkhanipoor… - Avicenna Journal of …, 2024 - ncbi.nlm.nih.gov
Background: CYP21A2 gene mutations are responsible for more than 95% of Congenital
Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these …
Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these …
Syrian females with congenital adrenal hyperplasia: a case series
Background One of the most common types of congenital adrenal hyperplasia is an
autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by …
autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by …
[HTML][HTML] Complex alleles of cyp21a2 are the most frequent causes of congenital adrenal hyperplasia in Iranian population
NA Kollahi, F Rohani, F Baghbani-arani… - Iranian Journal of …, 2019 - brieflands.com
Objectives: The purpose of this study was to investigate CYP21A2 mutations in Iranian
congenital adrenal hyperplasia (CAH) patients. Methods: In 25 patients, the first PCR was …
congenital adrenal hyperplasia (CAH) patients. Methods: In 25 patients, the first PCR was …
Analysis of common genetic mutations in a cohort of children with salt wasting form of Congenital Adrenal Hyperplasia
P Somasundaram, AS Hewage… - Ceylon Medical …, 2020 - account.cmj.sljol.info
Introduction: Steroid hydroxylase deficiency due to CYP21A2 gene mutation is the most
common cause of Congenital Adrenal Hyperplasia (CAH). Mutation spectrum in Sri Lankan …
common cause of Congenital Adrenal Hyperplasia (CAH). Mutation spectrum in Sri Lankan …