Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB

Míreanna Comhchosúla

• Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering
  le: Daud, Daniyal, et al.
  Foilsithe: (2015)
• SCP2 mutations and neurodegeneration with brain iron accumulation
  le: Horvath, Rita, et al.
  Foilsithe: (2015)
• SPG7 mutations are a common cause of undiagnosed ataxia
  le: Pfeffer, Gerald, et al.
  Foilsithe: (2015)
• Exome sequencing in undiagnosed inherited and sporadic ataxias
  le: Pyle, Angela, et al.
  Foilsithe: (2015)
• Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain
  le: Pfeffer, Gerald, et al.
  Foilsithe: (2014)