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

Severe, atypical form of dyschondrosteosis (report of two cases).

European journal of pediatrics - 1 Sept 2005

Bieganski Tadeusz, Bik Krzysztof, Cormier-Daire Valerie, Huber Celine, Nowicki Grzegorz, Kozlowski Kazimierz

Abstract excerpt

UNLABELLED: We report a mother and her son with unique mesomelic dysplasia. The mesomelic shortening in the upper extremities presents features of Leri-Weill syndrome (dyschondrosteosis) (OMIM 127300), that of the lower extremities is consistent with Langer mesomelic dysplasia (OMIM 249700). Molecular studies showed a heterozygous short stature homeobox gene ( SHOX)deletion in both patients. A second genetic...

Read the complete abstract on PubMed

Topics

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

Share to Ellis-Van Creveld Syndrome
Share to Gene Deletion

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

Share to Homeodomain Proteins

Share to Point Mutation

Share to Radiography

Share to Severity of Illness Index

Share to Short Stature Homeobox Protein

Share to Transcription Factors

Source

Identifiers

PMID: 15947998
DOI: 10.1007/s00431-005-1691-2

Genes

SHOX

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

Severe, atypical form of dyschondrosteosis (report of two cases).PMID 15947998Read ↗

[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation].Semantic proximity Read ↗

Langer's mesomelic dysplasia: a case report.Semantic proximity Read ↗

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.Semantic proximity Read ↗

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.Semantic proximity Read ↗

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Semantic proximity Read ↗

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.Semantic proximity Read ↗

Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site VariantSemantic proximity Read ↗

Langer mesomelic dysplasia in early fetuses: two cases and a literature review.Semantic proximity Read ↗

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.Semantic proximity Read ↗

Short stature and dysmorphology associated with defects in the SHOX gene.Semantic proximity Read ↗

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