CYP21A2 and CYP11B1 gene analyses in a virilized newborn female with congenital adrenal hyperplasia
Med Clin (Barc). 2023 Nov 24;161(10):448-449.
doi: 10.1016/j.medcli.2023.07.010.
Epub 2023 Aug 17.
[Article in
English,
Spanish]
Affiliations
- 1 Laboratorio de Diagnóstico Molecular, Servicio de Bioquímica, Hospital General Universitario Gregorio Marañón, Madrid, España. Electronic address: elena.llorente@salud.madrid.org.
- 2 Departamento de Endocrinología Pediátrica, Complejo Hospitalario Universitario de Albacete, Albacete, España.
- 3 Laboratorio de Diagnóstico Molecular, Servicio de Bioquímica, Hospital General Universitario Gregorio Marañón, Madrid, España; Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, España. Electronic address: begona.ezquieta@salud.madrid.org.
No abstract available
MeSH terms
-
Adrenal Hyperplasia, Congenital* / diagnosis
-
Adrenal Hyperplasia, Congenital* / genetics
-
Exons
-
Female
-
Humans
-
Infant, Newborn
-
Mutation
-
Steroid 11-beta-Hydroxylase / genetics
-
Steroid 21-Hydroxylase / genetics
Substances
-
CYP21A2 protein, human
-
Steroid 11-beta-Hydroxylase
-
Steroid 21-Hydroxylase