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What is Genes 12 01406 V2 about?
This case report discusses a rare instance of brachyolmia associated with amelogenesis imperfecta in a young boy, caused by a previously unreported homozygous splicing variant in the LTBP3 gene. The boy, born to consanguineous parents, exhibited a complex phenotype including skeletal dysplasia, aortic stenosis, and dental anomalies. The findings reinforce the notion that brachyolmia with amelogenesis imperfecta is a distinct clinical entity linked to variations in the LTBP3 gene.
- Author
- sssadsada
- Language
- EN