학술논문
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Document Type
Article
Author
Terhal, Paulien; Venhuizen, Anton J.; Lessel, Davor; Tan, Wen-Hann; Alswaid, Abdulrahman; Grün, Regina; Alzaidan, Hamad I.; von Kroge, Simon; Ragab, Nada; Hempel, Maja; Kubisch, Christian; Novais, Eduardo; Cristobal, Alba; Tripolszki, Kornelia; Bauer, Peter; Fischer-Zirnsak, Björn; Nievelstein, Rutger A.J.; van Dijk, Atty; Nikkels, Peter; Oheim, Ralf; Hahn, Heidi; Bertoli-Avella, Aida; Maurice, Madelon M.; Kornak, Uwe
Source
In The American Journal of Human Genetics 7 September 2023 110(9):1470-1481
Subject
Language
ISSN
0002-9297