학술논문
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Document Type
Article
Author
Terhal, P.; Venhuizen, A.J.; Cristobal, A.; Maurice, M.M.; Lessel, D.; Hempel, M.; Kubisch, C.; Tan, W.-H.; Alswaid, A.; Grün, R.; Ragab, N.; Hahn, H.; Kornak, U.; Alzaidan, H.I.; von Kroge, S.; Oheim, R.; Novais, E.; Tripolszki, K.; Bauer, P.; Bertoli-Avella, A.; Fischer-Zirnsak, B.; Nievelstein, R.A.J.; van Dijk, A.; Nikkels, P.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 September 2023, 110(9):1470-1481)
Subject
Language
English
ISSN
15376605
00029297
00029297