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

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...

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Main Authors: Shiqing Tan (Author), Xiaoting Wu (Author), Aoxue Wang (Author), Li Ying (Author)
Format: Book
Published: BMC, 2021-07-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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