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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

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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, M. | Captier, Guillaume | Carmi, Esther | Devauchelle, Bernard | Genevieve, David | Gondry-Jouet, Catherine | Guibaud, Laurent | Lafon, Arnaud | Mathieu Dramard, Michèle | Thévenon, Julien | Dobyns, William B. | Bernard, Geneviève | Polubothu, Satyamaanasa | Faravelli, Francesca | Kinsler, Veronica A. | Thauvin, Christel | Faivre, Laurence | Ross, Elizabeth M. | Rivière, Jean-Baptiste

Edité par CCSD ; Nature Publishing Group -

International audience. 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 toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease.

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Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome [Correction to: Nature Genetics https://doi.org/10.1038/s41588-019-0498-4, published online 30 September 2019]

Archive ouverte | Vabres, Pierre | CCSD

Indexation en cours. In the version of this article initially published, support from the Wellcome Trust and NIHR to author Veronica A. Kinsler was not included in the Acknowledgements. The error has been corrected in the HTML and...

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Archive ouverte | Vabres, Pierre | CCSD

Published Erratum: Correction to: Nature Genetics 51: 1438–1441 https://doi.org/10.1038/s41588-019-0498-4, published online 30 September 2019.In the version of this article initially published, authors Bénédicte Demeer and Bernard...

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Archive ouverte | Vabres, Pierre | CCSD

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