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Article

Tegumentary manifestations of Noonan and Noonan-related syndromes.

Clinics (Sao Paulo, Brazil) - 1 Jan 2013

Quaio Caio Robledo D'Angioli Costa, de Almeida Tatiana Ferreira, Brasil Amanda Salem, Pereira Alexandre C, Jorge Alexander A L, Malaquias Alexsandra C, Kim Chong Ae, Bertola Débora Romeo

Abstract excerpt

OBJECTIVES: Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms underlying ectodermal involvement. METHODS: A...

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Source

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Identifiers

PMID: 24037001
DOI: 10.6061/clinics/2013(08)03
PMCID: PMC3752636

Genes

BRAF
KRAS
PTPN11
RAF1
SOS1
PTPN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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