A Novel Mutation in the Von Hippel-Lindau Tumor Suppressor Gene Identified in a Patient Presenting with Gestational Diabetes Mellitus

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene...

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Detalles Bibliográficos
Autores principales: Ku, Yun Hyi, Ahn, Chang Ho, Jung, Chan-Hyeon, Lee, Jie Eun, Kim, Lee-Kyung, Kwak, Soo Heon, Jung, Hye Seung, Park, Kyong Soo, Cho, Young Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Endocrine Society 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3871045/
https://www.ncbi.nlm.nih.gov/pubmed/24396697
http://dx.doi.org/10.3803/EnM.2013.28.4.320

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