Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Background: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive disorder characterized by baldness, recurrent ischemic stroke, lumbago, headache, and dementia which is closely related to homozygous mutations of the high-temp...

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Detalles Bibliográficos
Autores principales: Li, Yu-Ming, Jia, Wei, Xin, Tao, Fang, Yu-Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547585/
https://www.ncbi.nlm.nih.gov/pubmed/37799144
http://dx.doi.org/10.3389/fgene.2023.1235650

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547585/
https://www.ncbi.nlm.nih.gov/pubmed/37799144
http://dx.doi.org/10.3389/fgene.2023.1235650

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