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Prevalence of kidney complications in a large cohort of patients with recessive dystrophic epidermolysis bullosa Boudhabhay, Idris; Bellon, Nathalia; Avramescu, Marina; Bataille, Pauline; Duval, Audrey; Rabant, Marion; Bodard, Sylvain; Ould-Rabah, Melissa; Leclerc-Mercier, Stephanie; Boyer, Olivia; Sakhi, Hamza; Canaud, Guillaume; Pillebout, Evangeline; Hadj-Rabia, Smail; Bourrat, Emmanuelle; Bodemer, Christine Share Save
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Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa Pironon, Nathalie; Gasparyan, Artyom; Yubero, Maria Joao; Duchatelet, Sabine; Hovhannesyan, Kristina; Leclerc-Mercier, Stephanie; Kostandyan, Natella; Palisson, Francis; Sarkisian, Tamara; Titeux, Matthias; Fuentes, Ignacia; Hovnanian, Alain Share Save
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A retrospective study on the liver toxicity of oral retinoids in Chanarin-Dorfman syndrome Valette, C.; Jonca, N.; Fischer, J.; Pernin-Grandjean, J.; Granier Tournier, C.; Diociaiuti, A.; Neri, I.; Dreyfus, I.; Furman, M.; Giehl, K.; Wollenberg, A.; Mallet, S.; Martin, L.; Martin-Santiago, A.; Onnis, G.; Broue, P.; Leclerc-Mercier, S.; Schmuth, M.; Sprecher, E.; Gruber, R.; Suessmuth, K.; Bourrat, E.; Komlosi, K.; Hill, S.; O'Toole, E. A.; Schischmanoff, O.; Caux, F.; Mazereeuw-Hautier, J. Share Save
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Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome Abbara, Salam; Freeman, Alexandra F.; Cohen, Jeremie F.; Leclerc-Mercier, Stephanie; Sanchez, Lauren; Schlatter, Joel; Cisternino, Salvatore; Parker, Ruth; Cowen, Edward W.; Rouzaud, Claire; Bougnoux, Marie Elisabeth; Lanternier, Fanny; Lionakis, Michail S.; Lortholary, Olivier Share Save
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Skin biopsy is helpful in the diagnosis of hereditary fibrosing POIKiloderma with tendon contractures, myopathy and pulmonary fibrosis, due to FAM111B mutation Leclerc-Mercier, S.; Mercier, S.; Bellon, N.; Hadj-Rabia, S.; Bodemer, C.; Hoeger, P.; Barbarot, S.; Fraitag, S. Share Save
Childhood epidermal necrolysis and erythema multiforme major: a multicentre French cohort study of 62 patients Giraud-Kerleroux, L.; Bellon, N.; Welfringer-Morin, A.; Leclerc-Mercier, S.; Costedoat, I.; Coquin, J.; Brun, A.; Roguedas-Contios, A. -m.; Bernier, C.; Milpied, B.; Tetart, F.; Du Thanh, A.; Cordel, N.; Bensaid, B.; Fargeas, C.; Tauber, M.; Renolleau, S.; Boralevi, F.; Ingen-Housz-Oro, S.; Bodemer, C. Share Save
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Management of albinism: French guidelines for diagnosis and care Moreno-Artero, E.; Morice-Picard, F.; Bremond-Gignac, D.; Drumare-Bouvet, I; Duncombe-Poulet, C.; Leclerc-Mercier, S.; Dufresne, H.; Kaplan, J.; Jouanne, B.; Arveiler, B.; Taieb, A.; Hadj-Rabia, S. Share Save