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Article

[Noonan syndrome: from phenotype to growth hormone therapy].

Arquivos brasileiros de endocrinologia e metabologia - 1 Jul 2008

Malaquias Alexsandra C, Ferreira Lize V, Souza Silvia C, Arnhold Ivo J P, Mendonça Berenice B, Jorge Alexander A L

Abstract excerpt

Noonan Syndrome (NS) is one of the most common genetic syndromes and it is an important differential diagnosis in children with short stature, delayed puberty and cryptorchidism. NS is characterized by dysmorphic facial features, congenital heart defects and short stature, but there is a great variability in phenotype. NS may occur in a pattern consistent with autosomal dominant inheritance with almost complete...

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Topics

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Share to Phenotype
Share to Body Height
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Failure to Thrive

Share to Human Growth Hormone

Share to Mitogen-Activated Protein Kinases

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 18797587
DOI: 10.1590/s0004-27302008000500012

Genes

PTPN11
KRAS
RAF1
SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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