De novo pathogenic variant in TUBB2A...

American Journal of Medical Genetics Part A 2017 / 08

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay

Ejaz, Resham, Lionel, Anath C., Blaser, Susan, Walker, Susan, Scherer, Stephen W., Babul-Hirji, Riyana, Marshall, Christian R., Stavropoulos, Dimitri J., Chitayat, David
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Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38352
Date:
August, 2017
File:
PDF, 629 KB
english, 2017
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