TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, Fariba Afroozan, Elham Keshavarz, Hayley Goullée, Mark R. Davis, Mehrshid Faraji Zonooz, Hossein Najmabadi, Nigel G. Laing, Homa Tajsharghi

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35 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology