Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso-Reference-Cited by-同舟云学术

Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso

Published:2010-01 Issue:1 Volume:72 Page:72-78
ISSN:1695-4033
Container-title:Anales de Pediatría
language:es
Short-container-title:Anales de Pediatría

Author:

Díez López I.,Rodríguez Estévez A.,González Molina E.,Martínez Ayucar M.,Rodríguez Pérez B.,Ezquieta Zubicaray B.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference32 articles.

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4. Gene conversion (655 splicing mutation) and the founder effect (Q318X) contribuye to the most frequent severe point mutations in congenital adrenal hyperplasia in the Spanish population;Ezquieta;Clin Genet,2002

5. Alopecia androgénica prematura en un varón con déficit de 21-hidroxilasa no clásico. Nueva mutación grave (Y336X) del gen CYP21A2 en 2 hermanos afectados;Bernal González;Med Clin (Barc),2006

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1. Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach;Frontiers in Endocrinology;2022-03-29

2. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation;Jornal de Pediatria;2019-05

3. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation☆☆;Jornal de Pediatria (Versão em Português);2019-05