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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Materias: | |
| 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 |