Article
[Unusual clinical manifestations of type 1 neurofibromatosis].
Orvosi hetilap - 4 Dec 2011
Komlósi Katalin, Polgár Noémi, Hadzsiev Kinga, Ottóffy Gábor, Illés Tamás, Dóczi Tamás, Melegh Béla
Abstract excerpt
UNLABELLED: Type 1 neurofibromatosis is an autosomal dominant hamartosis caused by mutations of the neurofibromin-1 gene. The classic features of the clinical phenotype include the presence of café-au-lait spots, neurofibromas, axillary and inguinal freckling, Lisch-nodules and deformities of the skeletal system, as well as the risk of developing multiple tumors, especially in the central nervous system. However,...
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