Litcius/Paper detail

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

2023The American Journal of Human Genetics13 citationsDOIOpen Access PDF

Topics & Concepts

OsteosclerosisAlleleDomain (mathematical analysis)GeneticsTerminal (telecommunication)MedicineBiologyPathologyGeneComputer scienceComputer networkMathematicsMathematical analysisBone health and treatmentsCancer-related gene regulationBone Metabolism and Diseases