Acquired thrombotic thrombocytopenic purpura with isolated CFHR3/1 deletion—rapid remission following complement blockade

por Bitzan, Martin, Hammad, Rawan M., Bonnefoy, Arnaud, Al Dhaheri, Watfa Shahwan, Vézina, Catherine, Rivard, Georges-Étienne
Publicado 2018

Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

por Kizhakkedath, Praseetha, AlDhaheri, Watfa, Baydoun, Ibrahim, Tabouni, Mohammed, John, Anne, Almansoori, Taleb M., Al-Turki, Saeed, Al-Jasmi, Fatma, Alblooshi, Hiba
Publicado 2023