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

doi:10.1038/gim.2016.32

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016

Kouz Karim, Lissewski Christina, Spranger Stephanie, Mitter Diana, Riess Angelika, Lopez-Gonzalez 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

Abstract excerpt

PURPOSE: 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...

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Identifiers

PMID: 27101134
DOI: 10.1038/gim.2016.32

Genes

RIT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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