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Article

Clinical and molecular studies in a large Dutch family with Noonan syndrome

1 Nov 1994

Abstract excerpt

We describe the largest Noonan syndrome (NS) family reported to date. The manifestations of the affected relatives are discussed. In the absence of a biochemical marker NS is still a clinical diagnosis. The diagnostic criteria that were used are presented compared with other published criteria for diagnosing NS. The large size of this family enabled us to test the possible involvement of candidate regions by...

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Identifiers

PMID: 7856646
DOI: 10.1002/ajmg.1320530213

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