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Article

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

American journal of medical genetics. Part A - 1 Nov 2012

Malaquias Alexsandra C, Brasil Amanda S, Pereira Alexandre C, Arnhold Ivo J P, Mendonca Berenice B, Bertola Debora R, Jorge Alexander A L

Abstract excerpt

Noonan syndrome (NS) and Noonan-like syndromes (NLS) are autosomal dominant disorders caused by heterozygous mutations in genes of the RAS/MAPK pathway. The aim of the study was to construct specific growth charts for patients with NS and NLS. Anthropometric measurements (mean of 4.3 measurements per patient) were obtained in a mixed cross-sectional and longitudinal mode from 127 NS and 10 NLS patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22887833
DOI: 10.1002/ajmg.a.35519

Genes

SDS
BRAF
RAF1
KRAS
SOS1
PTPN11

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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