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

• Autores principales: Yao Wang (Autor), Dong Yu (Autor), Wei Wei (Autor), Hao Zheng (Autor), Ming-Hua Liu (Autor), Long Ma (Autor), Li-Na Qin (Autor), Neng-Zhuang Wang (Autor), Jia-Xi Li (Autor), Jin-Jiang Wang (Autor), Xin-Ling Bi (Autor), Hong-Li Yan (Autor)
• Formato: Libro
• Publicado: BMC, 2022-06-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...