Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

Lignende værker

• Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
  af: Caroline Van Cauwenbergh, et al.
  Udgivet: (2017-01-01)
• Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
  af: Van Cauwenbergh, Caroline, et al.
  Udgivet: (2017)
• PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population
  af: Wu, Zehua, et al.
  Udgivet: (2019)
• Functional analysis of human mutations in homeodomain transcription factor PITX3
  af: Sakazume, Satoru, et al.
  Udgivet: (2007)
• The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
  af: Almoallem, Basamat, et al.
  Udgivet: (2020)