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

• Main Authors: Yao Wang (Author), Dong Yu (Author), Wei Wei (Author), Hao Zheng (Author), Ming-Hua Liu (Author), Long Ma (Author), Li-Na Qin (Author), Neng-Zhuang Wang (Author), Jia-Xi Li (Author), Jin-Jiang Wang (Author), Xin-Ling Bi (Author), Hong-Li Yan (Author)
• Format: Book
• Published: BMC, 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...