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Article

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Human molecular genetics - 1 May 2016

Casey Jillian P, Brennan Kieran, Scheidel Noemie, McGettigan Paul, Lavin Paul T, Carter Stephen, Ennis Sean, Dorkins Huw, Ghali Neeti, Blacque Oliver E, Mc Gee Margaret M, Murphy Helen, Lynch Sally Ann

Abstract excerpt

Skeletal dysplasias are a clinically and genetically heterogeneous group of bone and cartilage disorders. Whilst >450 skeletal dysplasias have been reported, 30% are genetically uncharacterized. We report two Irish Traveller families with a previously undescribed lethal skeletal dysplasia characterized by fetal akinesia, shortening of all long bones, multiple contractures, rib anomalies, thoracic dysplasia,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26908619
DOI: 10.1093/hmg/ddw054

Genes

NEK9

Variants

Provenance

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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