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The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate Pathways.

Genes - 17 Nov 2023

Marie-Hardy Laura, Courtin Thomas, Pascal-Moussellard Hugues, Zakine Serge, Brice Alexis

Abstract excerpt

A significant genetic involvement has been known for decades to exist in adolescent idiopathic scoliosis (AIS), a spine deformity affecting 1-3% of the world population. However, though biomechanical and endocrinological theories have emerged, no clear pathophysiological explanation has been found. Data from the whole-exome sequencing performed on 113 individuals in 19 multi-generational families with AIS have...

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Identifiers

PMID: 38003035
DOI: 10.3390/genes14112094
PMCID: PMC10671325

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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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