< b > < i > COL7A1 < /i > < /b > Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus

Conclusion: Most prenatal diagnoses of RDEB are the result of targeted molecular analyses carried out based on family history, and prenatal ultrasound reports of severe RDEB phenotypes are extremely rare. Our case suggests that the observation of abnormal epidermal lines should be given due consideration during prenatal diagnosis, as they may be a sign of possible epidermolysis bullosa.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research