A large family with MSH3-related polyposis

Biallelic MSH3 germline variants are a rare cause of adenomatous polyposis as yet reported in two small families only. We describe the phenotype of a third family, the largest thus far, with adenomatous polyposis related to compound heterozygous MSH3 pathogenic variants. The index patient was a 55-y...

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Detalles Bibliográficos
Autores principales: Aelvoet, Arthur S., Hoekman, Daniël R., Redeker, Bert J. W., Weegenaar, Jitske, Dekker, Evelien, van Noesel, Carel J. M., Duijkers, Floor A. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829574/
https://www.ncbi.nlm.nih.gov/pubmed/35675019
http://dx.doi.org/10.1007/s10689-022-00297-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829574/
https://www.ncbi.nlm.nih.gov/pubmed/35675019
http://dx.doi.org/10.1007/s10689-022-00297-x

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