Constitutional mismatch repair deficiency syndrome: Do we know it.

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dc.contributor.authorRamachandra, C
dc.contributor.authorChalla, Vasu Reddy
dc.contributor.authorShetty, Rachan
dc.date.accessioned2015-03-09T10:56:23Z
dc.date.available2015-03-09T10:56:23Z
dc.date.issued2014-04
dc.description.abstractConstitutional 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, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature.en_US
dc.identifier.citationRamachandra C, Challa Vasu Reddy, Shetty Rachan. Constitutional mismatch repair deficiency syndrome: Do we know it. Indian Journal of Human Genetics. 2014 Apr-Jun ; 20 (2): 192-194.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156660
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2014;volume=20;issue=2;spage=192;epage=194;aulast=Ramachandraen_US
dc.subjectConstitutional mismatch repair deficiencyen_US
dc.subjecthereditary nonpolyposis colorectal canceren_US
dc.subjectLynch syndromeen_US
dc.subjectmismatch repair genesen_US
dc.subject.meshChild
dc.subject.meshColorectal Cancer, Hereditary Nonpolyposis --diagnosis
dc.subject.meshDNA Mismatch Repair --genetics
dc.subject.meshHumans
dc.subject.meshLynch Syndrome II --diagnosis
dc.subject.meshLynch Syndrome II --genetics
dc.subject.meshMale
dc.titleConstitutional mismatch repair deficiency syndrome: Do we know it.en_US
dc.typeArticleen_US
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