Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene

MeSH terms

• Abnormalities, Multiple / diagnosis*
• Abnormalities, Multiple / genetics*
• Alleles*
• Child
• Chromosome Mapping
• Comparative Genomic Hybridization
• Gene Expression*
• Genetic Association Studies*
• Genetic Predisposition to Disease*
• Genotype
• Humans
• Limb Deformities, Congenital / diagnosis*
• Limb Deformities, Congenital / genetics*
• Male
• Phenotype
• Sulfotransferases / genetics*
• Synostosis / diagnosis*
• Synostosis / genetics*