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No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families. | LitMetric

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.

Am J Med Genet

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM, Paris, France.

Published: July 1993

A linkage analysis has been performed on 6 two-generation families with classical Noonan syndrome to determine whether the syndrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significantly negative location score was obtained between 10 cM centromeric to and 15 cM telomeric from the neurofibromatosis type 1 locus. A significantly negative lod score was obtained with a marker mapping within the region where neurofibromatosis type 2 is thought to be located. These data indicate that Noonan syndrome is not tightly linked to either neurofibromatosis type 1 or type 2.

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http://dx.doi.org/10.1002/ajmg.1320460621DOI Listing

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