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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Hypopigmentation along Blaschko’s lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leu...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858542/ https://www.ncbi.nlm.nih.gov/pubmed/31570889 http://dx.doi.org/10.1038/s41588-019-0498-4 |
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| author | Vabres, Pierre Sorlin, Arthur Kholmanskikh, Stanislav S. Demeer, Bénédicte St-Onge, Judith Duffourd, Yannis Kuentz, Paul Courcet, Jean-Benoît Carmignac, Virginie Garret, Philippine Bessis, Didier Boute, Odile Bron, Alain Captier, Guillaume Carmi, Esther Devauchelle, Bernard Geneviève, David Gondry-Jouet, Catherine Guibaud, Laurent Lafon, Arnaud Mathieu-Dramard, Michèle Thevenon, Julien Dobyns, William B. Bernard, Geneviève Polubothu, Satyamaanasa Faravelli, Francesca Kinsler, Veronica A. Thauvin, Christel Faivre, Laurence Ross, M. Elizabeth Rivière, Jean-Baptiste |
| author_facet | Vabres, Pierre Sorlin, Arthur Kholmanskikh, Stanislav S. Demeer, Bénédicte St-Onge, Judith Duffourd, Yannis Kuentz, Paul Courcet, Jean-Benoît Carmignac, Virginie Garret, Philippine Bessis, Didier Boute, Odile Bron, Alain Captier, Guillaume Carmi, Esther Devauchelle, Bernard Geneviève, David Gondry-Jouet, Catherine Guibaud, Laurent Lafon, Arnaud Mathieu-Dramard, Michèle Thevenon, Julien Dobyns, William B. Bernard, Geneviève Polubothu, Satyamaanasa Faravelli, Francesca Kinsler, Veronica A. Thauvin, Christel Faivre, Laurence Ross, M. Elizabeth Rivière, Jean-Baptiste |
| author_sort | Vabres, Pierre |
| collection | PubMed |
| description | Hypopigmentation along Blaschko’s lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental, and acral anomalies. Our findings pave the way towards elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease. |
| format | Online Article Text |
| id | pubmed-6858542 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-68585422020-03-30 Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome Vabres, Pierre Sorlin, Arthur Kholmanskikh, Stanislav S. Demeer, Bénédicte St-Onge, Judith Duffourd, Yannis Kuentz, Paul Courcet, Jean-Benoît Carmignac, Virginie Garret, Philippine Bessis, Didier Boute, Odile Bron, Alain Captier, Guillaume Carmi, Esther Devauchelle, Bernard Geneviève, David Gondry-Jouet, Catherine Guibaud, Laurent Lafon, Arnaud Mathieu-Dramard, Michèle Thevenon, Julien Dobyns, William B. Bernard, Geneviève Polubothu, Satyamaanasa Faravelli, Francesca Kinsler, Veronica A. Thauvin, Christel Faivre, Laurence Ross, M. Elizabeth Rivière, Jean-Baptiste Nat Genet Article Hypopigmentation along Blaschko’s lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental, and acral anomalies. Our findings pave the way towards elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease. 2019-09-30 2019-10 /pmc/articles/PMC6858542/ /pubmed/31570889 http://dx.doi.org/10.1038/s41588-019-0498-4 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Vabres, Pierre Sorlin, Arthur Kholmanskikh, Stanislav S. Demeer, Bénédicte St-Onge, Judith Duffourd, Yannis Kuentz, Paul Courcet, Jean-Benoît Carmignac, Virginie Garret, Philippine Bessis, Didier Boute, Odile Bron, Alain Captier, Guillaume Carmi, Esther Devauchelle, Bernard Geneviève, David Gondry-Jouet, Catherine Guibaud, Laurent Lafon, Arnaud Mathieu-Dramard, Michèle Thevenon, Julien Dobyns, William B. Bernard, Geneviève Polubothu, Satyamaanasa Faravelli, Francesca Kinsler, Veronica A. Thauvin, Christel Faivre, Laurence Ross, M. Elizabeth Rivière, Jean-Baptiste Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome |
| title | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome |
| title_full | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome |
| title_fullStr | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome |
| title_full_unstemmed | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome |
| title_short | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome |
| title_sort | postzygotic inactivating mutations of rhoa cause a mosaic neuroectodermal syndrome |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858542/ https://www.ncbi.nlm.nih.gov/pubmed/31570889 http://dx.doi.org/10.1038/s41588-019-0498-4 |
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