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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

Maud Jordan 1 Virginie Carmignac 2, 3, 4 Arthur Sorlin 2 Paul Kuentz 2 Juliette Albuisson 5 Luca Borradori 6 Emmanuelle Bourrat 7 Odile Boute 8, 9 Nenad Bukvic Anne-Claire Bursztejn 10 Christine Chiaverini 11 Bruno Delobel 12 Marine Fournet 13 Jehanne Martel 4, 3, 14 Alice Goldenberg 15 Smaïl Hadj-Rabia 3, 16, 17 Antoine Mahé 18 A Maruani 19 Juliette Mazereeuw-Hautier 20 Cyril Mignot 21 Fanny Morice-Picard 13 Marie-Laure Moutard 21 Florence Petit 9 Justine Pasteur 1 Alice Phan 22 Sandra Whalen 21 Marjolaine Willems 21 Christophe Philippe 2 Pierre Vabres 1, 2, 3 
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https://hal.archives-ouvertes.fr/hal-03158801
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Submitted on : Friday, May 20, 2022 - 10:26:08 AM
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Maud Jordan, Virginie Carmignac, Arthur Sorlin, Paul Kuentz, Juliette Albuisson, et al.. Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation. Journal of Investigative Dermatology, Nature Publishing Group, 2019, ⟨10.1016/j.jid.2019.08.455⟩. ⟨hal-03158801⟩

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