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 Grün, Hamad I Alzaidan, Simon von Kroge, Nada Ragab, Maja Hempel, Christian Kubisch, Eduardo Novais, Alba Cristobal, Kornelia Tripolszki, Peter Bauer, Björn Fischer-Zirnsak, Rutger A J Nievelstein, Atty van Dijk, Peter Nikkels, Ralf OheimHeidi Hahn, Aida Bertoli-Avella, Madelon M Maurice, Uwe Kornak

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Biochemistry, Genetics and Molecular Biology