Genotipado CYP21A2 y CYP11B1 en una neonata virilizada con hiperplasia suprarrenal congénita
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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