Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report

• Auteurs principaux: Shiqing Tan (Auteur), Xiaoting Wu (Auteur), Aoxue Wang (Auteur), Li Ying (Auteur)
• Format: Livre
• Publié: BMC, 2021-07-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2. Case presentation We reported a unique case of an 11-year-old Chinese girl with colorectal polyp...