Novel NUDT2 variant causes intellectual disability and polyneuropathy

Exome or genome sequencing was performed to identify the genetic etiology for the clinical presentation of global developmental delay, intellectual disability, and sensorimotor neuropathy with associated distal weakness in two unrelated families. A homozygous frameshift variant c.186delA (p.A63Qfs*3...

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Detalles Bibliográficos
Autores principales: Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664258/
https://www.ncbi.nlm.nih.gov/pubmed/33058507
http://dx.doi.org/10.1002/acn3.51209

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