X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy

MeSH terms

• Cardiovascular Abnormalities / diagnosis*
• Cardiovascular Abnormalities / genetics*
• CpG Islands
• DNA Methylation
• DNA Mutational Analysis
• Digestive System Abnormalities / diagnosis*
• Digestive System Abnormalities / genetics*
• Fanconi Anemia Complementation Group Proteins / genetics*
• Genes, X-Linked*
• Genetic Diseases, X-Linked / diagnosis*
• Genetic Diseases, X-Linked / genetics*
• Hemizygote
• Humans
• Hydrocephalus / diagnosis*
• Hydrocephalus / genetics*
• Infant, Newborn
• Infant, Premature
• Male
• Musculoskeletal Abnormalities / diagnosis*
• Musculoskeletal Abnormalities / genetics*
• Mutation*
• Pedigree
• X Chromosome Inactivation