A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity

Early-onset ataxias are often difficult to diagnose due to the genetic and phenotypic heterogeneity of patients. Whole exome sequencing (WES) is a powerful method for determining causative mutations of early-onset ataxias. We report a case in which a novel de novo KIF1A mutation was identified in a...

Descripción completa

Detalles Bibliográficos
Autores principales: Hama, Yuka, Date, Hidetoshi, Fujimoto, Akiko, Matsui, Ayano, Ishiura, Hiroyuki, Mitsui, Jun, Yamamoto, Toshiyuki, Tsuji, Shoji, Mizusawa, Hidehiro, Takahashi, Yuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657280/
https://www.ncbi.nlm.nih.gov/pubmed/36227410
http://dx.doi.org/10.1007/s12311-022-01489-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657280/
https://www.ncbi.nlm.nih.gov/pubmed/36227410
http://dx.doi.org/10.1007/s12311-022-01489-y

Ejemplares similares