New presentation of CLIFAHDD syndrome with a novel variant in NALCN gene: A report of a rare case

KEY CLINICAL MESSAGE: Congenital Contractures of Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) syndrome is a recently described type of distal arthrogryposis which unlike other subtypes is associated with developmental delay and various neurologic presentation. Epilepsy and ataxia ha...

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Detalles Bibliográficos
Autores principales: Hashemi, Bita, Huntsman, Richard J., Li, Huan, Zhang, Dapeng, Xi, Yanwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352546/
https://www.ncbi.nlm.nih.gov/pubmed/37469362
http://dx.doi.org/10.1002/ccr3.7647

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352546/
https://www.ncbi.nlm.nih.gov/pubmed/37469362
http://dx.doi.org/10.1002/ccr3.7647

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