Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive disease caused by homozygous or compound heterozygous variants in SPTBN4 coding for type 4 βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Variants in SPTBN4 disrup...

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Detalles Bibliográficos
Autores principales: Buelow, Markus, Süßmuth, David, Smith, Laurie D., Aryani, Omid, Castiglioni, Claudia, Stenzel, Werner, Bertini, Enrico, Schuelke, Markus, Knierim, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298470/
https://www.ncbi.nlm.nih.gov/pubmed/33772159
http://dx.doi.org/10.1038/s41431-021-00846-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298470/
https://www.ncbi.nlm.nih.gov/pubmed/33772159
http://dx.doi.org/10.1038/s41431-021-00846-5

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