Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

BACKGROUND: Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent. We describe the first case of somatic mosaicism by a de novo MLH1 mutation for a patient diagnosed with a rectosig...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Geurts‐Giele, Willemina R., Rosenberg, Efraim H., van Rens, Anja, van Leerdam, Monique E., Dinjens, Winand N., Bleeker, Fonnet E.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Clinical Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625132/
https://ncbi.nlm.nih.gov/pubmed/31104363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.699
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