First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate

• 主要な著者: Yao Wang (著者), Dong Yu (著者), Wei Wei (著者), Hao Zheng (著者), Ming-Hua Liu (著者), Long Ma (著者), Li-Na Qin (著者), Neng-Zhuang Wang (著者), Jia-Xi Li (著者), Jin-Jiang Wang (著者), Xin-Ling Bi (著者), Hong-Li Yan (著者)
• フォーマット: 図書
• 出版事項: BMC, 2022-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributing to an autosomal recessive disorder in the offspring of a heterozygou...