Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant

BACKGROUND: The NALCN encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. NALCN variants are associated with two neurodevelopmental disorders, one is CLIFAHDD (autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental dela...

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Detalles Bibliográficos
Autores principales: Liao, Zhenyu, Liu, Yali, Wang, Yimin, Lu, Qin, Peng, Yu, Liu, Qingsong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326163/
https://www.ncbi.nlm.nih.gov/pubmed/35911839
http://dx.doi.org/10.3389/fped.2022.927392

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326163/
https://www.ncbi.nlm.nih.gov/pubmed/35911839
http://dx.doi.org/10.3389/fped.2022.927392

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