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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging from Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Madeline Louise Reilly,Noor ul Ain,Mari Muurinen,Alice Tata,Celine Huber,Marleen Simon,Tayyaba Ishaq,Nick Shaw,Salla Rusanen,Minna Pekkinen,Wolfgang Hogler,Maarten F. C. M. Knapen,Myrthe van den Born,Sophie Saunier,Sadaf Naz,Valerie Cormier-Daire,Alexandre Benmerah,Outi Makitie

JOURNAL OF BONE AND MINERAL RESEARCH（2022）

引用 6|浏览32
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Smooth Muscle Alpha-Actin Mutations
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