Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene.
Young Mi HanNarae LeeShin Yun ByunSang-Jin CheonHyun-Chang KoPublished in: Fetal and pediatric pathology (2018)
The novel frameshift mutations in COL7A1 may result in Bart's syndrome and suggest the importance of genetic testing in diagnosis of this disease.
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