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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 by Firas Akrout, Firas Akrout, Ahlem Achour, Ahlem Achour, Ahlem Achour, Carli M. J. Tops, Richard Gallon, Rym Meddeb, Rym Meddeb, Sameh Achoura, Sameh Achoura, Mariem Ben Rekaya, Mariem Ben Rekaya, Emna Hamdeni, Soumaya Rammeh, Soumaya Rammeh, Ridha Chkili, Ridha Chkili, Nada Mansouri, Nada Mansouri, Neila Belguith, Neila Belguith, Ridha Mrad, Ridha Mrad
Published 2023-08-01
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