Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome

by Shatha Albluwi, Aude Maza, Maella Severino-Freire, Emilie Tournier, Juliette Mazereeuw-Hautier
Published 2020-04-01

Neuropsychiatric, cognitive and sexual impairment in mastocytosis patients

by Fatma Jendoubi, Maella Severino-Freire, Mathilde Negretto, Christophe Arbus, Carle Paul, Cristina Bulai Livideanu
Published 2021-03-01

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients

by Maella Severino-Freire, Aude Maza, Maria Paola Lombardi, Emilie Tournier, Nicolas Chassaing, Juliette Mazereeuw-Hautier
Published 2017-04-01

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis

by Juliette Mazereeuw-Hautier, Maella Severino-Freire, Véronique Gaston, Hélène Teixer, Marie Vincent, Hélène Aubert, Fanny Morice-Picard, Nathalie Jonca
Published 2020-02-01

Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg

by Clothilde Godillot, Maella Severino-Freire, Vincent Michaud, Franck Boralevi, Christine Labrèze, Vincent Guigonis, Giuliana Onnis, Fanny Morice-Picard, Juliette Mazereeuw-Hautier
Published 2019-06-01