Neurofibromatosis-Noonan syndrome.
作者信息
Buehning L, Curry C J
机构信息
Division of Dermatology, University of California at San Diego, La Jolla 92093-0645, USA.
出版信息
Pediatr Dermatol. 1995 Sep;12(3):267-71. doi: 10.1111/j.1525-1470.1995.tb00175.x.
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.
摘要
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