CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance
CNNM2 (Cystathionine-β-synthase-pair Domain Divalent Metal Cation Transport Mediator 2) pathogenic variants have been reported to cause hypomagnesemia, epilepsy, and intellectual disability/developmental delay (ID/DD). We identified two new cases with CNNM2 novel de novo pathogenic variants, c.814T&...
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Frontiers Media S.A.,
2021-09-01T00:00:00Z.
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