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A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.

Genes - 19 Jan 2024

Frasuńska Justyna, Pollak Agnieszka, Turczyn Paweł, Kutkowska-Kaźmierczak Anna, Pepłowski Jakub, Płoski Rafał, Tarnacka Beata

Abstract excerpt

A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing. The segregation of the newly described c.866A>C variant of the MYH3 gene...

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Identifiers

PMID: 38275606
DOI: 10.3390/genes15010125
PMCID: PMC10815230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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