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Watson, Christopher M. et al. Journal of Medical Genetics.

Watson, Christopher M. et al. Journal of Medical Genetics. 2016 Jan

Christopher M Watson and colleagues describe an exome sequencing approach  to identify the underlying genetic cause of the  Lethal fetal akinesia deformation sequence (FADS) phenotype. They report the first description of a human phenotype that appears to result from MYOD1 mutation,  c.188C>A p.(Ser63*) (NM_002478.4).



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