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

Abstract 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. Met...

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Egile Nagusiak:	Zohreh Elahi, Mohamad Soveyzi, Shahriar Nafissi, Yalda Nilipour, Masoumeh Goleyjani Moghadam, Elham Keshavarz, Ariana Kariminejad, Hossein Najmabadi, Zohreh Fattahi
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Wiley 2023-04-01
Saila:	Molecular Genetics & Genomic Medicine
Gaiak:	cell adhesion molecule NRCAM polyneuropathy whole‐exome sequencing
Sarrera elektronikoa:	https://doi.org/10.1002/mgg3.2131
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