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Article

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.

Journal of medical genetics - 24 Sept 2024

Gombosh Maya, Proskorovski-Ohayon Regina, Yogev Yuval, Eskin-Schwartz Marina, Hadar Noam, Aharoni Sarit, Dolgin Vadim, Cohen Eugen, Birk Ohad S

Abstract excerpt

BACKGROUND: Developmental dysplasia of the hip (DDH), formerly termed congenital dislocation of the hip, is the most common congenital disease of the musculoskeletal system in newborns. While familial predilection to DDH has been well documented, the molecular genetics/pathways of this common disorder are poorly understood. METHODS: Linkage analysis and whole exome sequencing; real-time PCR studies of skin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39054052
DOI: 10.1136/jmg-2024-109928

Genes

TRIM33
ALPL
BGLAP
DLX5
RUNX2

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.

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