AXIN1 Bi-Allelic Variants Disrupting the C-terminal DIX Domain Cause Craniometadiaphyseal Osteosclerosis with Hip Dysplasia.
Paulien Terhal, Anton J. Venhuizen,Davor Lessel,Wen-Hann Tan,Abdulrahman Alswaid, Regina Gruen,Hamad I. Alzaidan,Simon von Kroge,Nada Ragab,Maja Hempel,Christian Kubisch,Eduardo Novais,Alba Cristobal,Kornelia Tripolszki,Peter Bauer,Bjorn Fischer-Zirnsak,Rutger A. J. Nievelstein, Atty van Dijk,Peter Nikkels,Ralf Oheim,Heidi Hahn,Aida Bertoli-Avella,Madelon M. Maurice,Uwe Kornak The American Journal of Human Genetics（2023）
关键词
AXIN1, skeletal dysplasia, Wnt pathway, osteosclerosis, hip dysplasia, DIX domain
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