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Systemic vasculopathy associated with an RNF213 p.Arg4810Lys variant in moyamoya disease: A review

IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL Precision and Future Medicine Pub Date : 2022-08-12 DOI:10.23838/pfm.2022.00009

Duk-Kyung Kim, S. Jang, Sung‐A Chang, T. Park

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引用次数: 3

Abstract

Moyamoyadisease(MMD)isasteno-occlusivediseaseofthedistalcerebralarteries. Ringfingerprotein213(RNF213)p.Arg4810LysisasusceptibilitygeneofMMDforwhich relatedvasculopathiesarenotwellcharacterized.Heterozygouspatientsweremostly asymptomaticorexhibitedisolatedMMD.Homozygouspatientsshowedaveryunique patternofdiffusenarrowingoftheentireaortaalongwithstenosisofthesplanchnic, renal,coronary,iliofemoral,and/orperipheralpulmonaryarteries,regardlessofpres-enceorabsenceofMMD.RNF213p.Arg4810Lysisassociatedwithhighpenetranceof systemicvasculopathyinhomozygouspatientsandlowpenetranceofintracranialste-nosis,i.e.,MMD,inheterozygouspatients,whichsuggestsagene-dosageeffect.

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烟雾病与RNF213 p.Arg4810Lys变异相关的全体性血管病变:综述

Moyamoyadisease(MMD)isasteno-occlusivediseaseofthedistalcerebralarteries. Ringfingerprotein213(RNF213)p.Arg4810LysisasusceptibilitygeneofMMDforwhich relatedvasculopathiesarenotwellcharacterized.Heterozygouspatientsweremostly asymptomaticorexhibitedisolatedMMD.Homozygouspatientsshowedaveryunique patternofdiffusenarrowingoftheentireaortaalongwithstenosisofthesplanchnic, renal,coronary,iliofemoral,and/orperipheralpulmonaryarteries,regardlessofpres-enceorabsenceofMMD.RNF213p.Arg4810Lysisassociatedwithhighpenetranceof systemicvasculopathyinhomozygouspatientsandlowpenetranceofintracranialste-nosis,i.e.,MMD,inheterozygouspatients,whichsuggestsagene-dosageeffect.

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Precision and Future Medicine

Precision and Future Medicine MEDICINE, GENERAL & INTERNAL-

自引率

0.00%

发文量

15

审稿时长

10 weeks

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