Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report

BACKGROUND: The role of biallelic variants in the NRCAM gene underlying a neurodevelopmental disorder has been defined recently. The phenotype is mainly recognized by varying severity of global developmental delay/intellectual disability, hypotonia, spasticity, and peripheral neuropathy. METHODS: He...

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Detalles Bibliográficos
Autores principales: Elahi, Zohreh, Soveyzi, Mohamad, Nafissi, Shahriar, Nilipour, Yalda, Goleyjani Moghadam, Masoumeh, Keshavarz, Elham, Kariminejad, Ariana, Najmabadi, Hossein, Fattahi, Zohreh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094081/
https://www.ncbi.nlm.nih.gov/pubmed/36606341
http://dx.doi.org/10.1002/mgg3.2131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094081/
https://www.ncbi.nlm.nih.gov/pubmed/36606341
http://dx.doi.org/10.1002/mgg3.2131

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