Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

ABSTRACT Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome. Next‐Generation Sequencing (NGS) techniques disclose causative sequence variants in around 90% of HHT patients...

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Bibliographic Details
Main Authors: Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. Tørring
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
balanced translocation
chromosomal translocation
gastrointestinal cancer
Hereditary Hemorrhagic Telangiectasia
HHT
JP‐HHT
Online Access:https://doi.org/10.1002/mgg3.1498

Internet

https://doi.org/10.1002/mgg3.1498

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