Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome

MeSH terms

• Alleles
• Anophthalmos / diagnosis*
• Anophthalmos / genetics*
• DNA Mutational Analysis
• Family
• Female
• Genetic Association Studies
• Genetic Predisposition to Disease
• Humans
• Loss of Function Mutation*
• Lung Diseases / diagnosis*
• Lung Diseases / genetics*
• Male
• Membrane Proteins / genetics*
• Microphthalmos / diagnosis*
• Microphthalmos / genetics*
• Pedigree
• Phenotype