Constitutional mismatch repair deficiency syndrome: Do we know it.
Indian J Hum Genet
;
2014 Apr-Jun ; 20 (2): 192-194
Artigo
em Inglês
| IMSEAR
| ID: sea-156660
ABSTRACT
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, 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Masculino
/
Criança
/
Reparo de Erro de Pareamento de DNA
/
Síndrome de Lynch II
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2014
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS