Neurofibromatosis-Noonan syndrome
摘要：
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.
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DOI：
10.1002/(SICI)1096-8628(19980123)75:33.0.CO;2-R
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年份：
1998
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来源期刊
American Journal of Medical Genetics
1998/02/01
引用走势
2010
被引量：58
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