Condition: Neurofibromatosis-Noonan syndrome


rs137854550 in NF1 gene and Neurofibromatosis-Noonan syndrome PMID 16380919 2005 NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

PMID 19845691 2009 Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

PMID 12707950 2003 Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.