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

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. MPS II ha...

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Detalles Bibliográficos
Autores principales: Zhang, Chuan, Hao, Shengju, Meng, ZhaoYan, Hui, Ling, Wang, Yan, Xuan, Feng, Chen, Xue, Wang, Xing, Zheng, Furong, Zheng, Lei, Zhou, Bingbo, Wu, Xinqi, Zhang, Qinghua, Cao, Zongfu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247175/
https://www.ncbi.nlm.nih.gov/pubmed/34193122
http://dx.doi.org/10.1186/s12920-021-01027-5

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