[HTML][HTML] A case report of Werner's syndrome with a novel mutation from India

A Singh, S Ganguly, N Chhabra, H Yadav, J Oshima - Cureus, 2020 - ncbi.nlm.nih.gov
Werner's syndrome (WS) or progeria adultorum is a heritable autosomal recessive disease
in which the aging process is accelerated, just after puberty. It is caused by mutations in the …

Werner syndrome: clinical evaluation of two cases and a novel mutation

AT Mansur, NH Elçioglu, GT Demirci - Genetic counseling, 2014 - search.proquest.com
Werner syndrome (WS) is a premature aging disorder, inherited in an autosomal recessive
pattern and caused by the mutation in the WRN gene. In this report we describe two male …

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

M Muftuoglu, J Oshima, C von Kobbe, WH Cheng… - Human genetics, 2008 - Springer
Werner syndrome (WS) is an adult onset segmental progeroid syndrome caused by
mutations in the WRN gene. The WRN gene encodes a 180 kDa nuclear protein that …

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome

PF Wu, JY Jin, JJ Li, JQ He, LL Fan… - Molecular …, 2017 - spandidos-publications.com
Werner Syndrome (WS) is a rare, adult-onset progeroid syndrome that is associated with
multiple age-associated complications and relatively short life expectancy. The …

Biallelic WRN mutations in newly identified Japanese Werner syndrome patients

Y Maezawa, H Kato, M Takemoto, A Watanabe… - Molecular …, 2018 - karger.com
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by systemic
accelerated aging. It is caused by pathogenic variants of the WRN gene that encodes a …

Werner syndrome in a Lebanese family

B Jaafar, M Nasrallah, B Sievers… - American Journal of …, 2022 - Wiley Online Library
Werner syndrome (WS) is an extremely rare, autosomal recessive segmental progeroid
disorder caused by biallelic pathogenic variants in the WRN, which encodes a …

Early‐onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family

FW Hoff, C Xing, V Simha, AK Agarwal… - … Genetics & Genomic …, 2024 - Wiley Online Library
Background Diabetes mellitus (DM) in children and adolescents is typically caused by type 1
DM, followed by type 2 DM and maturity‐onset diabetes of the young (MODY). We report an …

Werner syndrome: a rare mutation

A Castagna, P Gareri, F Falvo, S Sestito… - Aging Clinical and …, 2019 - Springer
Werner syndrome (WS) is a premature progeroid syndrome characterized by early onset of
age-related diseases, such as atherosclerosis, cancer predisposition, osteoporosis, type 2 …

Narrowing the Position of the Werner Syndrome Locus by Homozygosity Analysis—Extension of Homozygosity Analysis

J Nakura, T Miki, L Ye, N Mitsuda, Y Zhao, K Kihara… - Genomics, 1996 - Elsevier
Werner syndrome (WS) is an autosomal recessive disorder characterized by the premature
occurrence of many age-related features. Previously, the WS gene (WRN) was mapped …

Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome

H Peng, J Wang, Y Liu, H Yang, L Li, Y Ma… - Frontiers in …, 2022 - frontiersin.org
Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation,
which is rarely reported in the Chinese population. We report the clinical and genetic data of …