Article
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Human mutation - 1 Apr 2021
Franken Gijs A C, Müller Dominik, Mignot Cyril, Keren Boris, Lévy Jonathan, Tabet Anne-Claude, Germanaud David, Tejada María-Isabel, Kroes Hester Y, Nievelstein Rutger A J, Brimble Elise, Ruzhnikov Maria, Claverie-Martin Felix, Szczepańska Maria, Ćuk Martin, Latta Femke, Konrad Martin, Martínez-Cruz Luis A, Bindels René J M, Hoenderop Joost G J, Schlingmann Karl-Peter, de Baaij Jeroen H F
Abstract excerpt
Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex...
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