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

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 polyposis an...

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Detalles Bibliográficos
Autores principales: Tan, Shiqing, Wu, Xiaoting, Wang, Aoxue, Ying, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8274000/
https://www.ncbi.nlm.nih.gov/pubmed/34247610
http://dx.doi.org/10.1186/s12920-021-01031-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8274000/
https://www.ncbi.nlm.nih.gov/pubmed/34247610
http://dx.doi.org/10.1186/s12920-021-01031-9

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