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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Detalles Bibliográficos
Autores principales: Zhang, Han, Wu, Ye, Jiang, Yuwu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481361/
https://www.ncbi.nlm.nih.gov/pubmed/34604137
http://dx.doi.org/10.3389/fped.2021.699568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481361/
https://www.ncbi.nlm.nih.gov/pubmed/34604137
http://dx.doi.org/10.3389/fped.2021.699568

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