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).
Watson, Christopher M. et al. Journal of Medical Genetics.
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JOHN GARCIA, Invitae
San Francisco, USA