%0 Journal Article
%T S¨ªndrome de microdeleci¨®n en la neurofibromatosis tipo- 1: presentaci¨®n de un caso
%A Orraca Castillo
%A Miladys
%A Licourt Otero
%A Deysi
%A S¨¢nchez ¨¢lvarez de La Campa
%A Ana Isabel
%J Revista de Ciencias M£¿£¿dicas de Pinar del R£¿-o
%D 2011
%I Editorial Ciencias M¨¦dicas
%X neurofibromatosis type-1 is a neuroectodermic genetic condition, where different types of mutations in nf1 gene have been described. its locus is located at chromosome-17, thousand align="justify">of genes are mapping, and some of them are found in very near regions of the gene of this disease. medical literature about the topic was reviewed; a case presenting the exact clinical characteristics of a microdeletion syndrome of nf1 gene is reported, which constitutes a new case to the cuban medical science.
%K neurofibromatoses [genetics]
%K neurofibromatoses [diagnosis]
%K neurofibromatoses [complications].
%U http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S1561-31942011000400019&lng=en&nrm=iso&tlng=en