Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Virginie Carmignac; Cyril Mignot; Emmanuelle Blanchard; Paul Kuentz; Marie-Hélène  Aubriot-Lorton; Victoria E.R. Parker; Arthur  Sorlin; Sylvie Fraitag; Jean-Benoît  Courcet; Yannis Duffourd; Diana Rodriguez; Rachel G. Knox; Satyamaanasa Polubothu; Anne Boland; Robert Olaso; Marc  Delepine; Véronique Darmency; Melissa Riachi; Chloé  Quelin; Paul Rollier; Louise Goujon; Sarah Grotto; Yline Capri; Marie-Line Jacquemont; Sylvie Odent; Daniel  Amram; Martin  Chevarin; Catherine Vincent-Delorme; Benoît  Catteau; Laurent  Guibaud; Alexis Arzimanoglou; Malika  Keddar; Catherine  Sarret; Patrick Callier; Didier Bessis; David  Geneviève; Jean-François Deleuze; Christel  Thauvin; Robert K Semple; Christophe Philippe; Jean-Baptiste Rivière; Veronica A Kinsler; Laurence Faivre; Pierre Vabres

doi:10.1038/s41436-021-01161-6

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Victoria E.R. Parker, Arthur Sorlin, Sylvie Fraitag, Jean-Benoît Courcet, Yannis Duffourd, Diana Rodriguez, Rachel G. Knox, Satyamaanasa Polubothu, Anne Boland, Robert Olaso, Marc Delepine, Véronique Darmency, Melissa Riachi, Chloé Quelin, Paul RollierLouise Goujon, Sarah Grotto, Yline Capri, Marie-Line Jacquemont, Sylvie Odent, Daniel Amram, Martin Chevarin, Catherine Vincent-Delorme, Benoît Catteau, Laurent Guibaud, Alexis Arzimanoglou, Malika Keddar, Catherine Sarret, Patrick Callier, Didier Bessis, David Geneviève, Jean-François Deleuze, Christel Thauvin, Robert K Semple, Christophe Philippe, Jean-Baptiste Rivière, Veronica A Kinsler, Laurence Faivre, Pierre Vabres

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Genetics in Medicine
Early online date	8 Apr 2021
DOIs	https://doi.org/10.1038/s41436-021-01161-6
Publication status	E-pub ahead of print - 8 Apr 2021

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Carmignac_mTOR_Accepted_March_21Accepted author manuscript, 2.33 MB

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Carmignac, V., Mignot, C., Blanchard, E., Kuentz, P., Aubriot-Lorton, M.-H., Parker, V. E. R., Sorlin, A., Fraitag, S., Courcet, J.-B., Duffourd, Y., Rodriguez, D., Knox, R. G., Polubothu, S., Boland, A., Olaso, R., Delepine, M., Darmency, V., Riachi, M., Quelin, C., ... Vabres, P. (2021). Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Genetics in Medicine. Advance online publication. https://doi.org/10.1038/s41436-021-01161-6

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title = "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.",

author = "Virginie Carmignac and Cyril Mignot and Emmanuelle Blanchard and Paul Kuentz and Marie-H{\'e}l{\`e}ne Aubriot-Lorton and Parker, {Victoria E.R.} and Arthur Sorlin and Sylvie Fraitag and Jean-Beno{\^i}t Courcet and Yannis Duffourd and Diana Rodriguez and Knox, {Rachel G.} and Satyamaanasa Polubothu and Anne Boland and Robert Olaso and Marc Delepine and V{\'e}ronique Darmency and Melissa Riachi and Chlo{\'e} Quelin and Paul Rollier and Louise Goujon and Sarah Grotto and Yline Capri and Marie-Line Jacquemont and Sylvie Odent and Daniel Amram and Martin Chevarin and Catherine Vincent-Delorme and Beno{\^i}t Catteau and Laurent Guibaud and Alexis Arzimanoglou and Malika Keddar and Catherine Sarret and Patrick Callier and Didier Bessis and David Genevi{\`e}ve and Jean-Fran{\c c}ois Deleuze and Christel Thauvin and Semple, {Robert K} and Christophe Philippe and Jean-Baptiste Rivi{\`e}re and Kinsler, {Veronica A} and Laurence Faivre and Pierre Vabres",

year = "2021",

month = apr,

day = "8",

doi = "10.1038/s41436-021-01161-6",

language = "English",

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Carmignac, V, Mignot, C, Blanchard, E, Kuentz, P, Aubriot-Lorton, M-H, Parker, VER, Sorlin, A, Fraitag, S, Courcet, J-B, Duffourd, Y, Rodriguez, D, Knox, RG, Polubothu, S, Boland, A, Olaso, R, Delepine, M, Darmency, V, Riachi, M, Quelin, C, Rollier, P, Goujon, L, Grotto, S, Capri, Y, Jacquemont, M-L, Odent, S, Amram, D, Chevarin, M, Vincent-Delorme, C, Catteau, B, Guibaud, L, Arzimanoglou, A, Keddar, M, Sarret, C, Callier, P, Bessis, D, Geneviève, D, Deleuze, J-F, Thauvin, C, Semple, RK, Philippe, C, Rivière, J-B, Kinsler, VA, Faivre, L & Vabres, P 2021, 'Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.', Genetics in Medicine. https://doi.org/10.1038/s41436-021-01161-6

TY - JOUR

T1 - Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

AU - Carmignac, Virginie

AU - Mignot, Cyril

AU - Blanchard, Emmanuelle

AU - Kuentz, Paul

AU - Aubriot-Lorton, Marie-Hélène

AU - Parker, Victoria E.R.

AU - Sorlin, Arthur

AU - Fraitag, Sylvie

AU - Courcet, Jean-Benoît

AU - Duffourd, Yannis

AU - Rodriguez, Diana

AU - Knox, Rachel G.

AU - Polubothu, Satyamaanasa

AU - Boland, Anne

AU - Olaso, Robert

AU - Delepine, Marc

AU - Darmency, Véronique

AU - Riachi, Melissa

AU - Quelin, Chloé

AU - Rollier, Paul

AU - Goujon, Louise

AU - Grotto, Sarah

AU - Capri, Yline

AU - Jacquemont, Marie-Line

AU - Odent, Sylvie

AU - Amram, Daniel

AU - Chevarin, Martin

AU - Vincent-Delorme, Catherine

AU - Catteau, Benoît

AU - Guibaud, Laurent

AU - Arzimanoglou, Alexis

AU - Keddar, Malika

AU - Sarret, Catherine

AU - Callier, Patrick

AU - Bessis, Didier

AU - Geneviève, David

AU - Deleuze, Jean-François

AU - Thauvin, Christel

AU - Semple, Robert K

AU - Philippe, Christophe

AU - Rivière, Jean-Baptiste

AU - Kinsler, Veronica A

AU - Faivre, Laurence

AU - Vabres, Pierre

PY - 2021/4/8

Y1 - 2021/4/8

U2 - 10.1038/s41436-021-01161-6

DO - 10.1038/s41436-021-01161-6

M3 - Article

SN - 1098-3600

JO - Genetics in Medicine

JF - Genetics in Medicine

ER -