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A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

A new family with NTHL1-associated polyposis (NAP) is described, involving a 58-year-old male affected with >100 colorectal polyps and a 55-year-old female sibling with nine colorectal polyps. The female was also diagnosed with a thyroid adenoma at age 40. Significantly, no malignant neoplasms ha...

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Detalles Bibliográficos
Autores principales: Altaraihi, Mays, Gerdes, Anne-Marie, Wadt, Karin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804823/
https://www.ncbi.nlm.nih.gov/pubmed/31645984
http://dx.doi.org/10.1038/s41439-019-0077-3