Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia

Two patients, 48- and 50-year-old sisters, presented with a characteristic facial appearance with slowly progressive deafness and cerebellar ataxia starting in their 30s. Genetic testing identified compound heterozygous pathogenic variants in the ERCC6 gene: c.1583G>A (p.G528E) and c.1873T>G (...

Descripción completa

Detalles Bibliográficos
Autores principales: Takahashi, Nobutaka, Mishima, Takayasu, Fujioka, Shinsuke, Izumi, Kohtarou, Ando, Masahiro, Higuchi, Yujiro, Takashima, Hiroshi, Tsuboi, Yoshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465293/
https://www.ncbi.nlm.nih.gov/pubmed/37532514
http://dx.doi.org/10.2169/internalmedicine.0061-22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465293/
https://www.ncbi.nlm.nih.gov/pubmed/37532514
http://dx.doi.org/10.2169/internalmedicine.0061-22

Ejemplares similares