Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Description | |
Date de publication | 18/10/2018 |
Auteurs | Bohm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB and Laporte J |
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Année | 2 018 |
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url DOI | 10.1136/jmedgenet-2018-105390 |