The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

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 stu...

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