article_metadata: Firas Akrout Ahlem Achour Carli M J Tops Richard Gallon Rym Meddeb Sameh Achoura Mariem Ben Rekaya Emna Hamdeni Soumaya Rammeh Ridha Chkili Nada Mansouri Neila Belguith Ridha Mrad
article_metadata: 10.3389/fonc.2023.1195814
article_metadata: Front Oncol
article_metadata: 2023 Aug 17;13:1195814.
article_metadata: cmmrd lynch syndrome mlh1 gene cmsi case report hereditary cancer syndromes next-generation sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37664053/
article_metadata: Case Reports
article_metadata: PMC10471184
article_metadata: 37664053
article_metadata: Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report
article_metadata: 2023