An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis

MeSH terms

• Abnormalities, Multiple / genetics*
• Abnormalities, Multiple / mortality
• Abnormalities, Multiple / pathology
• Aborted Fetus / abnormalities
• Female
• Gene Dosage / genetics*
• Genetic Predisposition to Disease*
• Hernia, Diaphragmatic / genetics*
• Hernia, Diaphragmatic / mortality
• Hernia, Diaphragmatic / pathology
• Humans
• Male
• Severity of Illness Index
• T-Box Domain Proteins / genetics*