Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review

BACKGROUND: Biallelic HTRA1 pathogenic variants are associated with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent studies have indicated that heterozygous HTRA1 variants are related to autosomal dominant hereditary cerebral small vessel...

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Detalles Bibliográficos
Autores principales: Zhou, Hui, Jiao, Bin, Ouyang, Ziyu, Wu, Qihui, Shen, Lu, Fang, Liangjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544214/
https://www.ncbi.nlm.nih.gov/pubmed/35946346
http://dx.doi.org/10.1002/mgg3.2032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544214/
https://www.ncbi.nlm.nih.gov/pubmed/35946346
http://dx.doi.org/10.1002/mgg3.2032

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