A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
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F. Alkuraya | P. Beales | M. Schmidts | E. Faqeih | A. Superti-Furga | H. Mitchison | R. Shaheen | E. Lausch | Agaadir Almoisheer | A. Hashem | F. Alzahrani | Rana Alamro | I. Holder | Tarfa Alshiddi