Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1

OBJECTIVE: To investigate the clinical effect of a heterozygous missense variant of HTRA1 on cerebral small vessel disease (CSVD) in a large Japanese family with a p.A252T variant. METHODS: We performed clinical, laboratory, radiologic, and genetic evaluations of members of a previously reported fam...

Descripción completa

Detalles Bibliográficos
Autores principales: Kondo, Yasufumi, Yoshinaga, Tsuneaki, Nakamura, Katsuya, Yamaguchi, Tomomi, Ishikawa, Masumi, Kosho, Tomoki, Sekijima, Yoshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756387/
https://www.ncbi.nlm.nih.gov/pubmed/36530220
http://dx.doi.org/10.1212/NXG.0000000000200047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756387/
https://www.ncbi.nlm.nih.gov/pubmed/36530220
http://dx.doi.org/10.1212/NXG.0000000000200047

Ejemplares similares