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Article

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2010

Brasil Amanda Salem, Malaquias Alexsandra C, Wanderley Luciana Turolla, Kim Chong Ae, Krieger José Eduardo, Jorge Alexander A L, Pereira Alexandre C, Bertola Débora Romeo

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant disorder, with variable phenotypic expression, characterized by short stature, facial dysmorphisms and heart disease. Different genes of the RAS/MAPK signaling pathway are responsible for the syndrome, the most common are: PTPN11, SOS1, RAF1, and KRAS. The objective of this study was to report a patient with Noonan syndrome presenting mutations in two genes of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

Identifiers

PMID: 21340158
DOI: 10.1590/s0004-27302010000800009

Genes

PTPN11
SOS1
KRAS
RAF1

Variants

Provenance

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Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?PMID 21340158Read ↗

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