Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma

HIGHLIGHTS

• who: PRKAR and colleagues from the Institute of Child Health and Human Development (NIH), United States of Crete, Greece have published the article: Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma, in the Journal: (JOURNAL)
• what: The authors performed genetic and clinical analyses of a Han Chinese family with suspected CNC. The authors report a novel mutation in the mRNA coding region within exon 9 of the PRKAR1A gene.
• how: The sequencing results were compared with the HG19 1000 Genome ExAC ESP6500 GnomAD dbNSFP and other databases. The . . .
  

   

  

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