A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

doi:10.1007/s13258-024-01589-5

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Article

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Genes & genomics - 1 Mar 2025

Moresco Giada, Rondinone Ornella, Mauri Alessia, Gorgoglione Rita, Graziani Daniela Maria Grazia, Dziuback Michal, Miozzo Monica Rosa, Sirchia Silvia Maria, Pietrogrande Luca, Peron Angela, Fontana Laura

Abstract excerpt

BACKGROUND: Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are mainly due to the complex processes underlying knee development. Despite progresses in understanding pathomechanisms and associated genes, many patients remain undiagnosed. OBJECTIVE: To uncover the genetic bases of a congenital patellar dislocation affecting multiple family members...

Read the complete abstract on PubMed

Topics

Humans
T-Box Domain Proteins
Frameshift Mutation
Male
Pedigree
Female

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

Adult

Phenotype

Abnormalities, Multiple

Lower Extremity Deformities, Congenital

Ischium

Bone Diseases, Developmental

Hip

Patella

Heart Defects, Congenital

Heart Septal Defects, Atrial

Upper Extremity Deformities, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 39467966
DOI: 10.1007/s13258-024-01589-5
PMCID: PMC11906559

Genes

TBX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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