Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

Volume: 18, Issue: 12, Pages: 1226 - 1234
Published: Apr 21, 2016
Abstract
Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused by germ-line mutations in genes encoding components of the RAS mitogen-activated protein kinase (MAPK) pathway. RIT1 was recently reported as a disease gene for NS, but the number of published cases is still limited. We sequenced...
Paper Details
Title
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Published Date
Apr 21, 2016
Volume
18
Issue
12
Pages
1226 - 1234
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