A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference47 articles.
1. Noonan syndrome.
2. Noonan phenotype associated with neurofibromatosis
3. Watson syndrome: is it a subtype of type 1 neurofibromatosis?
4. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
5. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association
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