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

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.

Genes - 24 Aug 2022

Markova Tatiana, Kenis Vladimir, Melchenko Evgenii, Alieva Aynur, Nagornova Tatiana, Orlova Anna, Ogorodova Natalya, Shchagina Olga, Polyakov Alexander, Dadali Elena, Kutsev Sergey

Abstract excerpt

Multiple epiphyseal dysplasias (MED) are a clinically and genetically heterogeneous group of skeletal dysplasias with a predominant lesion in the epiphyses of tubular bones. Variants in the SLC26A2 gene cause their autosomal recessive form (rMED or MED type 4). The accumulation of data regarding the genotype−phenotype correlation can help in the diagnosis and proper management of these patients. The aim of this...

Read the complete abstract on PubMed

Topics

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

Share to Anion Transport Proteins
Share to Connective tissue disorders research

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

Share to Dermatological and Skeletal Disorders

Share to Genetic factors in colorectal cancer

Share to Mutation

Share to Osteochondrodysplasias

Share to Patella

Share to Sulfate Transporters

Source

Open in PubMed Open full text

Identifiers

PMID: 36140680
DOI: 10.3390/genes13091512
PMCID: PMC9498659

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

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.PMID 36140680Read ↗

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.Semantic proximity Read ↗

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.Semantic proximity Read ↗

[Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.Semantic proximity Read ↗

SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.Semantic proximity Read ↗

Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.Semantic proximity Read ↗

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).Semantic proximity Read ↗

Molecular defects causing skeletal dysplasias.Semantic proximity Read ↗

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.Semantic proximity Read ↗

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.Semantic proximity Read ↗

Genotype–Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic SyndromesSemantic proximity Read ↗

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