Choroidal abnormalities and mental retardation in neurofibromatosis type 1 (Articolo in rivista)

Type
Label
  • Choroidal abnormalities and mental retardation in neurofibromatosis type 1 (Articolo in rivista) (literal)
Anno
  • 2001-01-01T00:00:00+01:00 (literal)
Alternative label
  • Ruggieri M. 1,2, Polizzi A. 2 (2001)
    Choroidal abnormalities and mental retardation in neurofibromatosis type 1
    in Lancet (Br. ed.)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Ruggieri M. 1,2, Polizzi A. 2 (literal)
Pagina inizio
  • 311 (literal)
Pagina fine
  • 312 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 357 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • This study report on clinical and imaging data (study years 1990-1999) on the incodence of mental retardation in NF1: 3.2% in the population of Catania and demonstrates that such developmental disability is not part of the NF1 phenotype. When it occurs in this way, a distinctive and more complex phenotype is recognisable: the so-called micro-deletion syndrome, i.e., subjects with large NF1 gene deletions and dysmoprhic features, mental retardation and early appearance of neurocfibromas. (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1) ISN, CNR, Catania, Italy; 2)Department of Pediatrics, University of Catania, Italy (literal)
Titolo
  • Choroidal abnormalities and mental retardation in neurofibromatosis type 1 (literal)
Abstract
  • Whatever rates we take to be the true incodence of mental retardation in NF1 (3.2 to 5%) evidence shows that such developmental disability is not part of the NF1 phenotype. When it occurs in this way, a distinctive and more complex phenotype is recognisable. (literal)
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