Research graph
References from Asesoramiento genético en pacientes portadores de la mutación p.V282L en el gen CYP21A2. Local targets link to admitted publications; unresolved targets remain external evidence.
Congenital adrenal hyperplasia due to steroid 21-hidroxylase deficiency: An Endocrine Society clinical practice guideline
10.1210/jc.2009-2631 · 2010 · External reference
Cribado neonatal de hiperplasia suprarrenal congénita
10.1016/j.endinu.2017.11.001 · 2018 · External reference
Unresolved reference
External reference
Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa
10.1016/j.anpedi.2016.12.002 · 2017 · External reference
Predicting Phenotype in Storoid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well defined patients from southern Germany
10.1210/jcem.85.3.6441 · 2010 · External reference
Carrier frequency of congenital adrenal hyperplasi (21-hydroxylase deficiency) in a middle European population
10.1210/jc.2004-1728 · 2005 · External reference
Non-classical 21-hydroxylase deficiency in children: Association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations
10.1111/j.1651-2227.2002.tb02851.x · 2002 · External reference
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify «apparently mild» CYP21A2 alleles which asóciate neonatal SALT-wasting disease
10.1002/pd.2537 · 2010 · External reference
Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone
10.1111/ajo.12423 · 2016 · External reference
Prenatal diagnosis of Congenital Adrenal Hyperplasia
10.1016/j.ecl.2016.01.001 · 2016 · External reference