| Neurofibromatosis with fully expressed Noonan syndrome. | |
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MedLine Citation:
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PMID: 3135755 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present an 18-year-old man with neurofibromatosis (NF) and classic manifestations of the Noonan syndrome (NS), including the cardiac findings. His father also has neurofibromatosis but only some of the characteristics of Noonan syndrome. This case lends further support to the notion that the neurofibromatosis-Noonan syndrome (NF-NS) is a discrete entity and demonstrates that the NF-NS can be inherited, with variable expression of the Noonan phenotype within a family. |
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Authors:
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D N Abuelo; D L Meryash |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 29 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1988 Apr |
Date Detail:
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Created Date: 1988-08-31 Completed Date: 1988-08-31 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 937-41 Citation Subset: IM |
Affiliation:
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Genetic Counseling Center, Rhode Island Hospital, Brown University Program in Medicine, Providence 02902. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adolescent Genes, Dominant Humans Male Neurofibromatosis 1 / complications, genetics* Noonan Syndrome / complications, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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