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Article

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Journal of medical genetics - 1 Jun 2015

Yamamoto Guilherme Lopes, Aguena Meire, Gos Monika, Hung Christina, Pilch Jacek, Fahiminiya Somayyeh, Abramowicz Anna, Cristian Ingrid, Buscarilli Michelle, Naslavsky Michel Satya, Malaquias Alexsandra C, Zatz Mayana, Bodamer Olaf, Majewski Jacek, Jorge Alexander A L, Pereira Alexandre C, Kim Chong Ae, Passos-Bueno Maria Rita, Bertola Débora Romeo

Abstract excerpt

BACKGROUND: Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The identification of novel genes associated with Noonan syndrome has become increasingly challenging, since they might be responsible for very small fractions of...

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Identifiers

PMID: 25795793
DOI: 10.1136/jmedgenet-2015-103018

Genes

LZTR1
SOS2
SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.PMID 25795793Read ↗

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