Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report
由纯合MLH1错义变异（c.1918C>A，p.(Pro640Thr)）引起的具有非典型特征的先天性错配修复缺陷综合征：病例报告
期刊:Frontiers in Oncology
影响因子:3.3
doi:10.3389/fonc.2023.1195814
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
