New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of
| Autor: | Baoheng, Gui, Yanning, Song, Zhe, Su, Fei-Hong, Luo, Linqi, Chen, Xiumin, Wang, Ruimin, Chen, Yu, Yang, Jin, Wang, Xiu, Zhao, Lijun, Fan, Xia, Liu, Yi, Wang, Shaoke, Chen, Chunxiu, Gong |
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| Rok vydání: | 2018 |
| Předmět: |
Male
China Hypospadias Steroid Metabolism Inborn Errors Disorder of Sex Development 46 XY Adolescent Genotype Infant Membrane Proteins Exons Founder Effect Cohort Studies Phenotype 3-Oxo-5-alpha-Steroid 4-Dehydrogenase Asian People Child Preschool Mutation Humans Female Genetic Testing Child Genetic Association Studies |
| Zdroj: | Journal of medical genetics. 56(10) |
| ISSN: | 1468-6244 |
| Popis: | The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the steroid 5α-reductase 2 (190 subjects diagnosed with 5α-RD2 deficiency were consecutively enrolled from eight medical centres in China. Their clinical manifestations and genetic variants were analysed.Hypospadias (isolated or combined with microphallus and/or cryptorchidism) was fairly common in the enrolled subjects (66.32%). 42 variants, including 13 novel variants, were identified inThis study profiled variable phenotypic presentation and wide mutational spectrum of |
| Databáze: | OpenAIRE |
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