CYP21A2 and CYP11B1 gene analyses in a virilized newborn female with congenital adrenal hyperplasia
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference5 articles.
1. Congenital adrenal hyperplasia. Current insights in pathophysiology, diagnostics, and management;Claahsen-van der Grinten;Endocr Rev,2022
2. Clinical and hormonal profiles correlate with molecular characteristics in patients with 11β-hydroxylase deficiency;Yildiz;J Clin Endocrinol Metab,2021
3. Molecular diagnosis of steroid 21-hydroxylase deficiency: a practical approach;Arriba;Front Endocrinol (Lausanne),2022
4. Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis;Ezquieta;Prenat Diagn,2006
5. [Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening];Ezquieta;Med Clin (Barc),2005
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