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

• Hoofdauteurs: Yao Wang (Auteur), Dong Yu (Auteur), Wei Wei (Auteur), Hao Zheng (Auteur), Ming-Hua Liu (Auteur), Long Ma (Auteur), Li-Na Qin (Auteur), Neng-Zhuang Wang (Auteur), Jia-Xi Li (Auteur), Jin-Jiang Wang (Auteur), Xin-Ling Bi (Auteur), Hong-Li Yan (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2022-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...