Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
双等位基因 KIF24 变异可导致一系列骨骼疾病,从致命的骨骼纤毛病到严重的肢端发育不良
期刊:Journal of Bone and Mineral Research
影响因子:5.1
doi:10.1002/jbmr.4639
Madeline Louise Reilly, Noor Ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F C M Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier-Daire, Alexandre Benmerah, Outi Makitie