Novel myopathy in a newborn with severe thoracic dysplasia...

Neuromuscular Disorders 2015 / 10 Vol. 25

Novel myopathy in a newborn with severe thoracic dysplasia caused by mutations in the SBDS gene: Further delineation of the phenotypic spectrum of Shwachman–Diamond syndrome

Hedberg Oldfors, C., Topa, A., Tulinius, M., Oldfors, A.
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Volume:
25
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2015.06.325
Date:
October, 2015
File:
PDF, 208 KB
english, 2015
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