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Article

One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Sept 2021

Bekircan-Kurt Can Ebru, Çetinkaya Arda, Gocmen Rahsan, Koşukcu Can, Soylemezoglu Figen, Arsava Ethem Murat, Tuncer Asli, Erdem-Ozdamar Sevim, Akarsu Nurten A, Topcuoglu Mehmet Akif

Abstract excerpt

OBJECTIVES: To identify the underlying genetic defect for a consanguineous family with an unusually high number of members affected by cerebral small vessel disease. MATERIALS AND METHODS: A total of 6 individuals, of whom 3 are severely affected, from the family were clinically and radiologically evaluated. SNP genotyping was performed in multiple members to demonstrate genome-wide runs-of-homozygosity. Coding...

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PMID: 34303089
DOI: 10.1016/j.jstrokecerebrovasdis.2021.105997

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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