ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant

This publication has 19 references indexed in Scilit:

• Eye development genes and known syndromes
  Molecular Genetics and Metabolism, 2011
• The genetics of anophthalmia and microphthalmia
  Current Opinion in Ophthalmology, 2011
• Retinoic acid promotes neural conversion of mouse embryonic stem cells in adherent monoculture
  Molecular Biology Reports, 2011
• Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease
  The American Journal of Human Genetics, 2011
• Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies
  Human Molecular Genetics, 2009
• Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
  Human Molecular Genetics, 2009
• Anophthalmia and microphthalmia
  Orphanet Journal of Rare Diseases, 2007
• CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
  Human Genetics, 2004
• Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea
  Human Molecular Genetics, 2003
• Molecular Cloning, Genomic Organization, and Chromosomal Localization of an Additional Human Aldehyde Dehydrogenase Gene, ALDH6
  Genomics, 1994