Publication:
A progeroid syndrome with severe osteogenesis imperfecta segregates with an intronic TAPT1 homozygous variant that creates a knockout allele

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SCHOOL OF MEDICINE
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Bressin, Annkatrin
Chia, PohHui
Traspas, Ricardo Moreno
Bonnard, Carine
Hojat, Zohreh
Drutman, Scott
Casanova, Jean-Laurent
Shboul, Mohammad
Mayor, Andreas

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Springernature

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Medicine

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European Journal of Human Genetics

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