Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report

Lignende værker

• Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E
  af: Johnson, David, et al.
  Udgivet: (2003)
• Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome
  af: Zhao, Xiuli , et al.
  Udgivet: (2007)
• Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlations
  af: Jamsheer, Aleksander, et al.
  Udgivet: (2012)
• 6 Clinical genetics of syn- and brachydactyly: mutations in FGFR2 and HOXD13
  af: Wilkie, AOM, et al.
  Udgivet: (2002)
• Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
  af: Jamsheer, Aleksander, et al.
  Udgivet: (2013)