Publication: A progeroid syndrome with severe osteogenesis imperfecta segregates with an intronic TAPT1 homozygous variant that creates a knockout allele
Program
KU Authors
Co-Authors
Bressin, Annkatrin
Chia, PohHui
Traspas, Ricardo Moreno
Bonnard, Carine
Hojat, Zohreh
Drutman, Scott
Casanova, Jean-Laurent
Shboul, Mohammad
Mayor, Andreas
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Publisher
Springernature
Subject
Medicine
Citation
Has Part
Source
European Journal of Human Genetics