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

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.

Journal of medical genetics - 20 Jun 2024

Charng Wu-Lin, Nikolov Momchil, Shrestha Isabel, Seeley Mark A, Josyula Navya Shilpa, Justice Anne E, Dobbs Matthew B, Gurnett Christina A

Abstract excerpt

BACKGROUND: Clubfoot, presenting as a rigid inward and downward turning of the foot, is one of the most common congenital musculoskeletal anomalies. The aetiology of clubfoot is poorly understood and variants in known clubfoot disease genes account for only a small portion of the heritability. METHODS: Exome sequence data were generated from 1190 non-syndromic clubfoot cases and their family members from multiple...

Read the complete abstract on PubMed

Topics

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

Share to Clubfoot
Share to Exome

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

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

Share to Homeodomain Proteins

Share to Pedigree

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 38663984
DOI: 10.1136/jmg-2024-109846
PMCID: PMC11228210

Genes

HOXD12
COL12A1
COL9A3
LMX1B
PITX1

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.PMID 38663984Read ↗

Genome-wide association study identifies new disease loci for isolated clubfoot.Semantic proximity Read ↗

Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.Semantic proximity Read ↗

Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.Semantic proximity Read ↗

Genetics, epidemiology and management of clubfoot and related disordersSemantic proximity Read ↗

[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].Semantic proximity Read ↗

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.Semantic proximity Read ↗

Rare and de novo duplications containing SHOX in clubfoot.Semantic proximity Read ↗

Genetics of clubfoot; recent progress and future perspectives.Semantic proximity Read ↗

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.Semantic proximity Read ↗

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.Semantic proximity Read ↗

Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia.Semantic proximity Read ↗

Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing resultsSemantic proximity Read ↗

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