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Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review

BackgroundCongenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result...

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Autores principales: Yi Chen, Xiaotong Xia, Yiwen Zhang, Li Gao, Chenyiyi He, Jianguo Cao
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2024-05-01
Colección:Frontiers in Pediatrics
Materias:
CLIFAHDD syndrome
NALCN gene
missense variant
hypotonia
developmental delay
genetic testing
Acceso en línea:https://www.frontiersin.org/articles/10.3389/fped.2024.1370790/full
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