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
Advisor
Publication Date
2023
Language
en
Type
Meeting abstract
Journal Title
Journal ISSN
Volume Title
Abstract
Description
Source:
European Journal of Human Genetics
Publisher:
Springernature
Keywords:
Subject
Medicine