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

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

M. Ben Rekaya | S. Rammeh | N. Belguith | C. Tops | A. Achour | R. Gallon | R. Mrad | R. Chkili | N. Mansouri | S. Achoura | Rym Meddeb | Firas Akrout | Emna Hamdeni | Ridha Mrad