Associated Papers
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
Ezquieta B et al.
Prenatal Diagnosis, 2010
Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis.
Ezquieta B et al.
Prenatal Diagnosis, 2006
[Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings].
Bernal González C et al.
Medicina Clinica, 2006
Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population.
Ezquieta B et al.
Clinical Genetics, 2002
Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.
Ezquieta B et al.
Acta Paediatrica (oslo, Norway : 1992), 2002
A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family.
Ezquieta B et al.
Hormone Research, 1999
Microsatellite markers in the indirect analysis of the steroid 21-hydroxylase gene.
Ezquieta B et al.
Prenatal Diagnosis, 1997
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.
Ezquieta B et al.
Human Genetics, 1995
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