Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies,...

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Detalles Bibliográficos
Autores principales: Akrout, Firas, Achour, Ahlem, Tops, Carli M. J., Gallon, Richard, Meddeb, Rym, Achoura, Sameh, Ben Rekaya, Mariem, Hamdeni, Emna, Rammeh, Soumaya, Chkili, Ridha, Mansouri, Nada, Belguith, Neila, Mrad, Ridha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471184/
https://www.ncbi.nlm.nih.gov/pubmed/37664053
http://dx.doi.org/10.3389/fonc.2023.1195814

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