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Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association

✍ Scribed by Bahuau, Michel; Flintoff, Wayne; Assouline, Brigitte; Lyonnet, Stanislas; Le Merrer, Martine; Prieur, Marguerite; Guilloud-Bataille, Michel; Feingold, Nicole; Munnich, Arnold; Vidaud, Michel; Vidaud, Dominique

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
807 KB
Volume
66
Category
Article
ISSN
0148-7299

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✦ Synopsis

A large four-generation family with Noonan syndrome (NS) and neurofibromatosis-type 1 (NF1) was studied for clinical association between the two diseases and for linkage analysis with polymorphic DNA markers of the NF1 region in 17q11.2. Nonrandom segregation between NS and "1 phenotypes was observed. Neurofibromatosis was tightly linked to NF'1 markers, whereas Noonan syndrome was found not be allelic to NF1. These results suggest that two mutations at two independent but closely linked loci are the cause of neurofibromatosis-Noonan syndrome (NF-NS) association in this family.

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