Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

Am J Med Genet A. 2014 Sep;164A(9):2310-6. doi: 10.1002/ajmg.a.36646. Epub 2014 Jun 17.

Authors

Monika Gos¹, Somayyeh Fahiminiya, Jarosław Poznański, Jakub Klapecki, Ewa Obersztyn, Małgorzata Piotrowicz, Jolanta Wierzba, Renata Posmyk, Jerzy Bal, Jacek Majewski

Affiliation

¹ Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

PMID: 24939608
DOI: 10.1002/ajmg.a.36646

No abstract available

Keywords: Noonan syndrome; RAS/MAPK pathway; RASopathy; RIT1; whole exome sequencing.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
Genetic Heterogeneity*
Humans
Molecular Sequence Data
Mutation / genetics*
Noonan Syndrome / genetics*
ras Proteins / genetics*

Substances

RIT1 protein, human
ras Proteins