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Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Lilia KraouaHager JaouadiMohamed AlloucheAhlem AchourHakim KaoutherHabib Ben AhmedLilia ChakerFaouzi MaazoulFatma OuardaStephane ZaffranRidha M'rad
Published in: Molecular genetics & genomic medicine (2022)
The present study adds further evidence on the pathogenicity of ACTN2: p. Ala119Thr variant in SCD and expands the mutational spectrum of the LZTR1 gene related to Noonan syndrome.
Keyphrases
  • case report
  • genome wide
  • copy number
  • dna methylation
  • biofilm formation
  • staphylococcus aureus
  • genome wide identification