title: The strange association between achondroplasia and neurofibromatosis type 1: molecular analysis of a new patient and review of the literature.
abstract: The association between Achondroplasia and Neurofibromatosis type 1 has been described in only three patients. We report the clinical features and molecular characterization of a new patient with de novo ACH and NF1, providing for the first time a detailed clinical and molecular evaluation. Even if this association seems coincidental, some startling, intriguing correlations are discussed at the clinical and molecular level, between ACH, NF, and the existence of a common "mutator" genotype.
authors.affiliation: Department of Neurological and Psychiatry Sciences, Child Neuropsychiatric Service, University of Bari, Italy. l.margari@neurol.uniba.it
authors.forename: L
authors.initials: L
authors.lastname: Margari
authors.forename: A
authors.initials: A
authors.lastname: Presicci
authors.forename: P
authors.initials: P
authors.lastname: Ventura
authors.forename: S M
authors.initials: SM
authors.lastname: Bacca
authors.forename: T
authors.initials: T
authors.lastname: Tota
authors.forename: T
authors.initials: T
authors.lastname: Perniola
authors.forename: M
authors.initials: M
authors.lastname: Gentile
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000235:genetics*; D002648:Child; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008967:Molecular Biology / Q000379:methods*; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics*