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

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.

Pediatric radiology - 1 Mar 2001

Prinster C, Del Maschio M, Beluffi G, Maghnie M, Weber G, Del Maschio A, Chiumello G

Abstract excerpt

BACKGROUND: Hypochondroplasia is characterised by phenotypic and genetic heterogeneity. Differentiation from other conditions with disproportionate short stature is often difficult. OBJECTIVE: To determine the reliability of radiological interpretation in the diagnosis of hypochondroplasia and to evaluate the most typical skeletal abnormalities. These data were correlated with molecular findings. MATERIALS AND...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Bone and Bones

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Protein-Tyrosine Kinases

Share to Radiography

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Receptors, Fibroblast Growth Factor

Share to Reproducibility of Results

Source

Identifiers

PMID: 11297088
DOI: 10.1007/s002470000398

Genes

FGFR3

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.PMID 11297088Read ↗

[Hypochondroplasia: importance of radiological findings in the differential diagnosis of short statures of different origin].Semantic proximity Read ↗

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia.Semantic proximity Read ↗

Criteria for radiologic diagnosis of hypochondroplasia in neonates.Semantic proximity Read ↗

Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.Semantic proximity Read ↗

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.Semantic proximity Read ↗

New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.Semantic proximity Read ↗

High specificity of head circumference to recognize N540K mutation in hypochondroplasia.Semantic proximity Read ↗

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.Semantic proximity Read ↗

[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].Semantic proximity Read ↗

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.Semantic proximity Read ↗

Clinical and genetic heterogeneity of hypochondroplasia.Semantic proximity Read ↗

Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.Semantic proximity Read ↗

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