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

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 fulfill...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Aagaard, Katrine S., Brusgaard, Klaus, Miceikaite, Ieva, Larsen, Martin J., Kjeldsen, Anette D., Lester, Emilie B., Ousager, Lilian B., Tørring, Pernille M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
Soggetti:
Clinical Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667351/
https://ncbi.nlm.nih.gov/pubmed/33058509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1498
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