Werner syndrome due to homozygous WRN mutation through chromosome 8 region of homozygosity in a consanguineous family.

IF 2.5 4区医学 Q3 GERIATRICS & GERONTOLOGY

Geriatrics & Gerontology International Pub Date : 2025-07-22 DOI:10.1111/ggi.70130

Siruo Liu, Xiaoli Wang, Xiaojuan Zhao

引用次数: 0

Abstract

An 18-year-old man showing growth retardation, progeroid facies and acral abnormalities was found to have Werner syndrome caused by a homozygous WRN mutation (c.502_503del) located within a 36.7-Mb region of homozygosity on chromosome 8.

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在一个近亲家族中，通过8号染色体纯合区域的WRN纯合突变引起Werner综合征。

一名18岁男性表现为生长迟缓、早老性相和肢端异常，被发现患有Werner综合征，这是由位于8号染色体36.7 mb纯合区域的纯合WRN突变（c.502_503del）引起的。

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

Geriatrics & Gerontology International 医学-老年医学

CiteScore

5.50

自引率

6.10%

发文量

189

审稿时长

4-8 weeks

期刊介绍： Geriatrics & Gerontology International is the official Journal of the Japan Geriatrics Society, reflecting the growing importance of the subject area in developed economies and their particular significance to a country like Japan with a large aging population. Geriatrics & Gerontology International is now an international publication with contributions from around the world and published four times per year.