Article
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
European journal of human genetics : EJHG - 1 May 2013
Ben-Shachar Shay, Constantini Shlomi, Hallevi Hen, Sach Emma K, Upadhyaya Meena, Evans Gareth D, Huson Susan M
Abstract excerpt
Neurofibromatosis type 1 (NF1) and its related disorders (NF1-Noonan syndrome (NFNS) and Watson syndrome (WS)) are caused by heterozygous mutations in the NF1 gene. Pulmonary stenosis (PS) occurs more commonly in NF1 and its related disorders than in the general population. This study investigated whether PS is associated with specific types of NF1 gene mutations in NF1, NFNS and WS. The frequency of different...
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