High carrier frequency of 21-hydroxylase deficiency in Cyprus-Reference-Cited by-同舟云学术

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High carrier frequency of 21-hydroxylase deficiency in Cyprus

Published:2013-04-22 Issue:6 Volume:84 Page:585-588
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Phedonos AAP¹,Shammas C¹,Skordis N¹²³,Kyriakides TC⁴,Neocleous V¹,Phylactou LA¹

Affiliation:

1. Department of Molecular Genetics, Function and Therapy; The Cyprus Institute of Neurology and Genetics; 1683 Nicosia Cyprus

2. Paediatric Endocrine Unit; Makarios III Hospital; Nicosia Cyprus

3. St George's University of London Medical School at the University of Nicosia; Nicosia Cyprus

4. Department of Epidemiology & Public Health; Yale University; New Haven CT USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Nonclassic adrenal hyperplasia;Speiser;Rev Endocr Metab Disord,2009

2. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency;New;Proc Natl Acad Sci USA,2013

3. Nonclassic congenital adrenal hyperplasia;Witchel;Curr Opin Endocrinol Diabetes Obes,2012

4. Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia;Haider;Proc Natl Acad Sci USA,2013

5. Mutations in steroid 21-hydroxylase (CYP21);White;Hum Mutat,1994

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3. Prenatal androgen exposure and sex-typical play behaviour: A meta-analysis of classic congenital adrenal hyperplasia studies;Neuroscience & Biobehavioral Reviews;2024-04

4. High carrier frequency of CYP21A2 gene mutations in Southern India – underscoring the need for genetic testing in Congenital Adrenal Hyperplasia;Endocrine;2024-03-05

5. Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population;Genes;2023-10-20

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