A familial case of CAMK2B mutation with variable expressivity

Variants in CAMK2-associated genes have recently been implicated in neurodevelopmental disorders and intellectual disability. The clinical manifestations reported in patients with mutations in these genes include intellectual disability (ranging from mild to severe), global developmental delay, seiz...

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Detalles Bibliográficos
Autores principales: Heiman, Paige, Drewes, Sarah, Ghaloul-Gonzalez, Lina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970700/
https://www.ncbi.nlm.nih.gov/pubmed/33796307
http://dx.doi.org/10.1177/2050313X21990982

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7970700/
https://www.ncbi.nlm.nih.gov/pubmed/33796307
http://dx.doi.org/10.1177/2050313X21990982

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