title: Neurofibromatosis-Noonan syndrome.
abstract: Type I neurofibromatosis (NF-1) and Noonan syndrome (NS) are two fairly common genetic disorders. Patients with features of both disorders have been described, but considerable variability of phenotypic expression occurs. As a result, the correct nosology of this syndrome is uncertain. We present a patient with full expression of both NF-1 and NS phenotypes, and discuss the debate regarding the genetics of the combined syndrome.
authors.affiliation: Division of Dermatology, University of California at San Diego, La Jolla 92093-0645, USA.
authors.forename: L
authors.initials: L
authors.lastname: Buehning
authors.forename: C J
authors.initials: CJ
authors.lastname: Curry
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics