• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=22669776).
  
• Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Gly370Cys (c.1108G>T); ClinVar=VCV000016359; Zygosity=Unspecified (PubMed=22669776).
  

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