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Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
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.
Afiliación
  • Akrout F; Department of Neurosurgery, Military Hospital of Tunis, Tunis, Tunisia.
  • Achour A; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Tops CMJ; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
  • Gallon R; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Meddeb R; Laboratory of Human Genetics, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Achoura S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Ben Rekaya M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Hamdeni E; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
  • Rammeh S; Laboratory of Human Genetics, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Chkili R; Department of Neurosurgery, Military Hospital of Tunis, Tunis, Tunisia.
  • Mansouri N; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Belguith N; Research Unit of Onco-theranostic Biomarkers UR17ES15, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Mrad R; Department of Pathology, Charles Nicolle Hospital, Tunis, Tunisia.
Front Oncol ; 13: 1195814, 2023.
Article en En | MEDLINE | ID: mdl-37664053
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Oncol Año: 2023 Tipo del documento: Article País de afiliación: Túnez Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Oncol Año: 2023 Tipo del documento: Article País de afiliación: Túnez Pais de publicación: Suiza