Characteristic Clinical Features of Werner Syndrome with a Novel Compound Heterozygous WRN Mutation c.1720+1G>A Plus c.3139-1G>C

Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN gene (WRN). Most Japanese WS patients are born from a consanguineous marriage with homozygous WRN mutations. We herein report a rare WS patient born from non-consanguineous parents with compound heterozy...

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Detalles Bibliográficos
Autores principales: Matsumoto, Namiko, Ohta, Yasuyuki, Deguchi, Kentaro, Kishida, Masayuki, Sato, Kota, Shang, Jingwei, Takemoto, Mami, Hishikawa, Nozomi, Yamashita, Toru, Watanabe, Aki, Yokote, Koutaro, Takemoto, Minoru, Oshima, Junko, Abe, Koji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478977/
https://www.ncbi.nlm.nih.gov/pubmed/30568144
http://dx.doi.org/10.2169/internalmedicine.1816-18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478977/
https://www.ncbi.nlm.nih.gov/pubmed/30568144
http://dx.doi.org/10.2169/internalmedicine.1816-18

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