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
Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1?
β Scribed by Colby, Randall S. ;Saul, Robert A.
- Book ID
- 101450739
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 93 KB
- Volume
- 123A
- Category
- Article
- ISSN
- 0148-7299
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## Abstract **BACKGROUND**: The disorder neurofibromatosis type 1 (NF1) is caused by mutations in the __NF1__ gene, which influences the availability of activated Ras and the latter's control of cellular proliferation. Emphasis on this aspect of __NF1__ has focused attention on the tumor suppressio
## Abstract Signs of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson syndrome (WS), neurofibromatosisβNoonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonanβlike