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A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Human molecular genetics - 1 Mar 2015

Shaheen Ranad, Schmidts Miriam, Faqeih Eissa, Hashem Amal, Lausch Ekkehart, Holder Isabel, Superti-Furga Andrea, Mitchison Hannah M, Almoisheer Agaadir, Alamro Rana, Alshiddi Tarfa, Alzahrani Fatma, Beales Philip L, Alkuraya Fowzan S

Abstract excerpt

Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies. JATD is genetically heterogeneous with at least nine genes identified, all encoding ciliary proteins, hence the classification of JATD as a skeletal ciliopathy. Consistent with the observation that the heterogeneous molecular basis of JATD has not been...

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PMID: 25361962
DOI: 10.1093/hmg/ddu555
PMCID: PMC4321448

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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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A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.PMID 25361962Read ↗

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