*Result*: A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
*Author/editor-in-chief*:
Shaheen, Ranad (Verfasser); Schmidts, Miriam (Verfasser) ; Faqeih, Eissa Ali (Verfasser); Hashem, Amal (Verfasser); Lausch, Ekkehart (Verfasser) ; Holder, Isabel (Verfasser); Superti-Furga, Andrea (Verfasser) ; Mitchison, Hannah M. (Verfasser); Almoisheer, Agaadir (Verfasser); Alamro, Rana (Verfasser); Alshiddi, Tarfa (Verfasser); Alzahrani, Fatma (Verfasser); Beales, Philip L. (Verfasser); Alkuraya, Fowzan S. (Verfasser); UK10K Consortium, [Study group] (Verfasser)
*Publication*:
Freiburg : Universität, 2025
*Physical description scale*:
1 Online-Ressource
*Format*:
*Language*:
*eng*
*Notes*:
Human molecular genetics. - 24, 5 (2015) , 1410-1419, ISSN: 1460-2083
*DOI*:
10.1093/hmg/ddu555