Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expanding the genetic spectrum of Noonan syndrome.

Hormone research - 1 Jan 2007

Noordam Kees

Abstract excerpt

BACKGROUND: The autosomal-dominant Noonan syndrome (MIM 163950) is characterized by short stature, typical facial dysmorphology and heart defects. Noonan syndrome is genetically heterogeneous. Over the last few years, germline mutations in four genes have been found in people with clinical signs...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genes, Dominant
Share to Growth
Share to Growth Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neurofibromatosis 1

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to ras Proteins

Share to SOS1 Protein

Source

Identifiers

PMID: 18174700
DOI: 10.1159/000110468

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18174700-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the genetic spectrum of Noonan syndrome.PMID 18174700Read ↗

[Noonan syndrome: genetic and clinical update and treatment options].Semantic proximity Read ↗

Noonan syndrome: genetic and clinical update and treatment optionsSemantic proximity Read ↗

Noonan syndrome: an update on growth and development.Semantic proximity Read ↗

Noonan syndrome – a new surveySemantic proximity Read ↗

[Noonan syndrome: from phenotype to growth hormone therapy].Semantic proximity Read ↗

Clinical features, genetic detection and therapeutic response to rhGH of children with Noonan syndrome: an analysis of 12 cases.Semantic proximity Read ↗

Efficacy and safety of growth hormone therapy in children with Noonan syndrome.Semantic proximity Read ↗

Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK PathwaySemantic proximity Read ↗

Core clinical symptoms and heterogeneous manifestations of NS / LAH: three case reports and review of the literatureSemantic proximity Read ↗

[Clinical practice guidelines for Noonan syndrome].Semantic proximity Read ↗

GH therapy in Noonan syndrome: Review of final height data.Semantic proximity Read ↗

Noonan syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.