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Document type:
Journal Article; Article 
Author(s):
Kouz, Karim; Lissewski, Christina; Spranger, Stephanie; Mitter, Diana; Riess, Angelika; López-González, Vanesa; Lüttgen, Sabine; Aydin, Hatip; von Deimling, Florian; Evers, Christina; Hahn, Andreas; Hempel, Maja; Issa, Ulrike; Kahlert, Anne-Karin; Lieb, Adrian; Villavicencio-Lorini, Pablo; Ballesta-Martinez, Maria Juliana; Nampoothiri, Sheela; Ovens-Raeder, Angela; Puchmajerová, Alena; Satanovskij, Robin; Seidel, Heide; Unkelbach, Stephan; Zabel, Bernhard; Kutsche, Kerstin; Zenker, Martin 
Title:
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. 
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 RIT1 in 310 mutation-negative individuals with a suspec...    »
 
Journal title abbreviation:
Genet Med 
Year:
2016 
Journal volume:
18 
Journal issue:
12 
Pages contribution:
1226-1234 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
1098-3600 
TUM Institution:
Fachgebiet Nephrologie (Prof. Heemann)