Article
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
European journal of medical genetics - 1 Oct 2021
Couchonnal Eduardo, Bouchard Sophie, Sandahl Thomas Damgaard, Pagan Cecile, Lion-François Laurence, Guillaud Olivier, Habes Dalila, Debray Dominique, Lamireau Thierry, Broué Pierre, Fabre Alexandre, Vanlemmens Claire, Sobesky Rodolphe, Gottrand Frederic, Bridoux-Henno Laure, Belmalih Abdelouahed, Poujois Aurelia, Brunet Anne Sophie, Lachaux Alain, Bost Muriel
Abstract excerpt
BACKGROUND/AIM: The spectrum of ATP7B variants varies significantly according to geographic distribution, and there is insufficient data on the variants observed in the French population. METHODS: Clinical data of 113 children included in the French WD national registry were gathered from March 01, 1995 to July 01, 2020. Data included epidemiological, clinical, laboratory, genetics. RESULTS: Diagnosis was made at...
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