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A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562857/ https://www.ncbi.nlm.nih.gov/pubmed/33088526 http://dx.doi.org/10.1002/ccr3.3028 |
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author | Dalili, Setilla Rabbani, Bahareh Hassanzadeh Rad, Afagh Koohmanaee, Shaahin Mahdieh, Nejat |
author_facet | Dalili, Setilla Rabbani, Bahareh Hassanzadeh Rad, Afagh Koohmanaee, Shaahin Mahdieh, Nejat |
author_sort | Dalili, Setilla |
collection | PubMed |
description | Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus. |
format | Online Article Text |
id | pubmed-7562857 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-75628572020-10-20 A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male Dalili, Setilla Rabbani, Bahareh Hassanzadeh Rad, Afagh Koohmanaee, Shaahin Mahdieh, Nejat Clin Case Rep Case Reports Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus. John Wiley and Sons Inc. 2020-06-18 /pmc/articles/PMC7562857/ /pubmed/33088526 http://dx.doi.org/10.1002/ccr3.3028 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Reports Dalili, Setilla Rabbani, Bahareh Hassanzadeh Rad, Afagh Koohmanaee, Shaahin Mahdieh, Nejat A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male |
title | A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male |
title_full | A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male |
title_fullStr | A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male |
title_full_unstemmed | A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male |
title_short | A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male |
title_sort | novel pathogenic variant of srd5a2 in an iranian psuedohermaphrodite male |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7562857/ https://www.ncbi.nlm.nih.gov/pubmed/33088526 http://dx.doi.org/10.1002/ccr3.3028 |
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