Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was rece
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1
✍ Scribed by AM Nyström; S Ekvall; J Allanson; C Edeby; M Elinder; G Holmström; ML Bondeson; G Annerén
- Book ID
- 110888847
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 733 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0009-9163
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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 observe
We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previously reported nonsense mutation R1947X. This Cto-T