A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
Jeune 窒息性胸廓营养不良症的创始 CEP120 突变扩大了中心粒蛋白在骨骼纤毛病中的作用
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddu555
Ranad Shaheen, Miriam Schmidts, Eissa Faqeih, Amal Hashem, Ekkehart Lausch, Isabel Holder, Andrea Superti-Furga; UK10K Consortium; Hannah M Mitchison, Agaadir Almoisheer, Rana Alamro, Tarfa Alshiddi, Fatma Alzahrani, Philip L Beales, Fowzan S Alkuraya
