Associated Papers
Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.
Trimeche O et al.
Journal of Medical Genetics, 2025
39643432 (PubMed )
Supplement: jmg-62-2-s001.pdf
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N et al.
The Application of Clinical Genetics, 2022
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
Nyström AM et al.
Clinical Genetics, 2009
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
Mattocks C et al.
Journal of Medical Genetics, 2004
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
Baralle D et al.
American Journal of Medical Genetics. Part A, 2003
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