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
Clinical and molecular studies in a large Dutch family with Noonan syndrome
β Scribed by Van Der Burgt, Ineke ;Berends, Ed ;Lommen, Ed ;Van Beersum, Sylvia ;Hamel, Ben ;Mariman, Edwin
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 536 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0148-7299
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