Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency
Objective: Molecular genetics and clinical phenotypic characteristics of 5 alpha reductase deficiency were analyzed. Methods: The genetic results and clinical features classied as Prader grade of external genitalia of 86 children with SRD5A2 mutation seen from 2007 to 2017 at Department of Endocrino...
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 57(2019), 2 vom: 02. Feb., Seite 131-135 |
|---|---|
| Auteur principal: | |
| Autres auteurs: | , , |
| Format: | Article en ligne |
| Langue: | Chinese |
| Publié: |
2019
|
| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Journal Article 5α-reductase Genotype Phenotype SRD5A2 gene Membrane Proteins 3-Oxo-5-alpha-Steroid 4-Dehydrogenase EC 1.3.99.5 SRD5A2 protein, human |
| Accès en ligne |
Volltext |