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

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 charact...

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Veröffentlicht in:	Human molecular genetics 2016-05, Vol.25 (9), p.1824-1835
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Caenorhabditis elegans - genetics Caenorhabditis elegans - growth & development Caenorhabditis elegans - metabolism Cell Cycle - physiology Cells, Cultured Cilia - pathology Female Fibroblasts - metabolism Fibroblasts - pathology Genes, Recessive - genetics Humans Infant Male Mutation - genetics NIMA-Related Kinases - genetics Osteochondrodysplasias - etiology Osteochondrodysplasias - pathology Pedigree Polymorphism, Single Nucleotide - genetics
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