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A first case report of hypohidrotic ectodermal dysplasia from Oman
This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.
| 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/PMC7141724/ https://www.ncbi.nlm.nih.gov/pubmed/32274043 http://dx.doi.org/10.1002/ccr3.2723 |
| _version_ | 1783519252389560320 |
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| author | Al‐Araimi, Musallam Hamza, Nishath Al Hosni, Aliya Al Mazrooey, Hiba |
| author_facet | Al‐Araimi, Musallam Hamza, Nishath Al Hosni, Aliya Al Mazrooey, Hiba |
| author_sort | Al‐Araimi, Musallam |
| collection | PubMed |
| description | This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome. |
| format | Online Article Text |
| id | pubmed-7141724 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-71417242020-04-09 A first case report of hypohidrotic ectodermal dysplasia from Oman Al‐Araimi, Musallam Hamza, Nishath Al Hosni, Aliya Al Mazrooey, Hiba Clin Case Rep Case Reports This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome. John Wiley and Sons Inc. 2020-02-29 /pmc/articles/PMC7141724/ /pubmed/32274043 http://dx.doi.org/10.1002/ccr3.2723 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/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Reports Al‐Araimi, Musallam Hamza, Nishath Al Hosni, Aliya Al Mazrooey, Hiba A first case report of hypohidrotic ectodermal dysplasia from Oman |
| title | A first case report of hypohidrotic ectodermal dysplasia from Oman |
| title_full | A first case report of hypohidrotic ectodermal dysplasia from Oman |
| title_fullStr | A first case report of hypohidrotic ectodermal dysplasia from Oman |
| title_full_unstemmed | A first case report of hypohidrotic ectodermal dysplasia from Oman |
| title_short | A first case report of hypohidrotic ectodermal dysplasia from Oman |
| title_sort | first case report of hypohidrotic ectodermal dysplasia from oman |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141724/ https://www.ncbi.nlm.nih.gov/pubmed/32274043 http://dx.doi.org/10.1002/ccr3.2723 |
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