Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations

Hamartomatous polyposis syndromes (HPS) are rare cancer-predisposing disorders including Juvenile polyposis (JPS), Peutz–Jeghers (PJS) and PTEN hamartomatous syndromes (PHS). Penetrant mutations in corresponding genes (SMAD4, BMPR1A, STK11, PTEN and AKT1), are usually diagnosed via a next-generation...

Descripción completa

Detalles Bibliográficos
Autores principales: Kariv, Revital, Dahary, Dvir, Yaron, Yuval, Petel-Galil, Yael, Malcov, Mira, Rosner, Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407864/
https://www.ncbi.nlm.nih.gov/pubmed/36011318
http://dx.doi.org/10.3390/genes13081408

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407864/
https://www.ncbi.nlm.nih.gov/pubmed/36011318
http://dx.doi.org/10.3390/genes13081408

Ejemplares similares