Biallelic BICD2 Variant is a Novel Candidate for Cohen-Like Syndrome

Heterozygous mutations in Bicaudal D2 Drosophila homolog 2 (BICD2) gene, encodes a vesicle transport protein involved in dynein-mediated movement along microtubules, are responsible for an exceedingly rare autosomal dominant spinal muscular atrophy type 2A which starts in the childhood and predomina...

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Detalles Bibliográficos
Autores principales: Caglayan, Ahmet Okay, Tuysuz, Beyhan, Gül, Ece, Alkaya, Dilek Uludag, Yalcinkaya, Cengiz, Gleeson, Joseph G., Bilguvar, Kaya, Gunel, Murat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9420744/
https://www.ncbi.nlm.nih.gov/pubmed/35338243
http://dx.doi.org/10.1038/s10038-022-01032-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9420744/
https://www.ncbi.nlm.nih.gov/pubmed/35338243
http://dx.doi.org/10.1038/s10038-022-01032-1

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