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\fancypagestyle firstpage\fancyhf \lhead \chead \rhead \cfoot فروردین ماه ۱۴۰۴ KRIT1 in Familial Cerebral Cavernous Malformation Related Syndromes: Case Report and Literature Review

2025-04-04

Abstract excerpt

We presented a pedigree of familial cerebral cavernous malformation with the pathogenic mutation of KRIT1 gene: NM_194456.1: c.1630delT(p.Tyr544Ilefs*8). The mutation site located at exon16/CDS12 in chr7:91844025-91844025. The proband had paroxysmal dizziness and sluggish reaction except for common manifestations, and subsequently received surgical treatment with a favourable prognosis. In recent years, mutations

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Literature Corpus work: 0b13aa4d-1e10-5e20-b121-e3cf11ddde9e
DOI: 10.22541/au.174373761.19054317/v1

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