AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Paulien A. Terhal, Anton J. Venhuizen, Davor Lessel, Wen‐Hann Tan, Abdulrahman Alswaid, Regina Grün, Hamad Alzaidan, Simon von Kroge, Nada Ragab, Maja Hempel, Christian Kubisch, Eduardo Novais, Alba Cristobal, Kornélia Tripolszki, Peter Bauer, Björn Fischer‐Zirnsak, Rutger A. J. Nievelstein, Atty van Dijk, Peter G. J. Nikkels, Ralf Oheim, Heidi Hahn, Aida M. Bertoli‐Avella, Madelon M. Maurice, Uwe Kornak
Topics & Concepts
OsteosclerosisAlleleDomain (mathematical analysis)GeneticsTerminal (telecommunication)MedicineBiologyPathologyGeneComputer scienceComputer networkMathematicsMathematical analysisBone health and treatmentsCancer-related gene regulationBone Metabolism and Diseases