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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

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author: John Joseph Reynolds  John Postlethwait  Martin R Higgs  Amaka C. Offiah  Mary E Dickinson  Richard A Gibbs  Philippe M. Campeau  Jordan S. Orange  Celine Huber  Christine M. Eng  Ivan K Chinn  Lefkothea P Karaviti  David Parry  Andrew Jackson  Grant S Stewart  Donna Muzny 

Publication date March 7, 2019
Language English
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