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Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).[Image: see text]
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405053/ https://www.ncbi.nlm.nih.gov/pubmed/37431816 http://dx.doi.org/10.15252/emmm.202216090 |
| _version_ | 1785085438052007936 |
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| author | Gerber, Sylvie Lessard, Lola Rouzier, Cécile Ait‐el‐Mkadem Saadi, Samira Ameli, Roxana Thobois, Stéphane Abouaf, Lucie Bouhour, Françoise Kaplan, Josseline Putoux, Audrey Pegat, Antoine Rozet, Jean‐Michel |
| author_facet | Gerber, Sylvie Lessard, Lola Rouzier, Cécile Ait‐el‐Mkadem Saadi, Samira Ameli, Roxana Thobois, Stéphane Abouaf, Lucie Bouhour, Françoise Kaplan, Josseline Putoux, Audrey Pegat, Antoine Rozet, Jean‐Michel |
| author_sort | Gerber, Sylvie |
| collection | PubMed |
| description | Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).[Image: see text] |
| format | Online Article Text |
| id | pubmed-10405053 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-104050532023-08-08 Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy Gerber, Sylvie Lessard, Lola Rouzier, Cécile Ait‐el‐Mkadem Saadi, Samira Ameli, Roxana Thobois, Stéphane Abouaf, Lucie Bouhour, Françoise Kaplan, Josseline Putoux, Audrey Pegat, Antoine Rozet, Jean‐Michel EMBO Mol Med Correspondence Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).[Image: see text] John Wiley and Sons Inc. 2023-07-11 /pmc/articles/PMC10405053/ /pubmed/37431816 http://dx.doi.org/10.15252/emmm.202216090 Text en © 2023 The Authors. Published under the terms of the CC BY 4.0 license https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Correspondence Gerber, Sylvie Lessard, Lola Rouzier, Cécile Ait‐el‐Mkadem Saadi, Samira Ameli, Roxana Thobois, Stéphane Abouaf, Lucie Bouhour, Françoise Kaplan, Josseline Putoux, Audrey Pegat, Antoine Rozet, Jean‐Michel Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_full | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_fullStr | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_full_unstemmed | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_short | Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy |
| title_sort | autosomal recessive pathogenic msto1 variants in hereditary optic atrophy |
| topic | Correspondence |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405053/ https://www.ncbi.nlm.nih.gov/pubmed/37431816 http://dx.doi.org/10.15252/emmm.202216090 |
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