Constitutional mismatch repair deficiency syndrome: Do we know it?

Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots...

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Detalles Bibliográficos
Autores principales: Ramachandra, C., Challa, Vasu Reddy, Shetty, Rachan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228574/
https://www.ncbi.nlm.nih.gov/pubmed/25400351
http://dx.doi.org/10.4103/0971-6866.142902

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228574/
https://www.ncbi.nlm.nih.gov/pubmed/25400351
http://dx.doi.org/10.4103/0971-6866.142902

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