Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

doi:10.1002/jbmr.4639

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Article

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2022

Reilly Madeline Louise, Ain Noor Ul, Muurinen Mari, Tata Alice, Huber Céline, Simon Marleen, Ishaq Tayyaba, Shaw Nick, Rusanen Salla, Pekkinen Minna, Högler Wolfgang, Knapen Maarten F C M, van den Born Myrthe, Saunier Sophie, Naz Sadaf, Cormier-Daire Valérie, Benmerah Alexandre, Makitie Outi

Abstract excerpt

Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal dysplasia in three unrelated families with variable sk...

Topics

Animals
Ciliopathies
Dwarfism
Humans
Mutation
Osteochondrodysplasias
Pedigree
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35748595
DOI: 10.1002/jbmr.4639
PMCID: PMC9545074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-35748595-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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