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Detailed Pedigree Analyses and Prenatal Diagnosis for a Family With Mucopolysaccharidosis Type II
source: BMC medical genomics
year: 2021
authors: Zhang C,Hao S,Meng Z,Hui L,Wang Y,Xuan F,Chen X,Wang X,Zheng F,Zheng L,Zhou B,Wu X,Zhang Q,Cao Z
summary/abstract: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. MPS II has high genetic heterogeneity disorder, and ~ 658 variants of IDS have been reported.
organization: Gansu Province Maternal and Child Health Care Hospital, Lanzhou, 730050, China.DOI: 10.1186/s12920-021-01027-5
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