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Neurofibromatosis‐Noonan Syndrome
Author(s) -
Buehning Laura,
Curry Cynthia J.
Publication year - 1995
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1995.tb00175.x
Subject(s) - noonan syndrome , neurofibromatosis , nosology , medicine , variable expression , phenotype , genetic disorder , costello syndrome , osteochondrodysplasia , neurofibromatosis type i , genetics , pediatrics , pathology , biology , disease , gene , cancer , colorectal cancer , kras
Type I neurolibromatosis (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.