Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

• Main Authors: Chuan Zhang (Author), Shengju Hao (Author), ZhaoYan Meng (Author), Ling Hui (Author), Yan Wang (Author), Feng Xuan (Author), Xue Chen (Author), Xing Wang (Author), Furong Zheng (Author), Lei Zheng (Author), Bingbo Zhou (Author), Xinqi Wu (Author), Qinghua Zhang (Author), Zongfu Cao (Author)
• Format: Book
• Published: BMC, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS). The clinical manifestations of MPS II include skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. M...