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Article

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.

American journal of medical genetics. Part A - 1 Dec 2010

Sohn Young Bae, Kim Su Jin, Park Sung Won, Park Hyung-Doo, Ki Chang-Seok, Kim Chi Hwa, Huh Seung Won, Yeau Sunghee, Paik Kyung-Hoon, Jin Dong-Kyu

Abstract excerpt

Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase. Most reported patients are males because of X-linked recessive inheritance pattern. Only a few female patients with Hunter syndrome have been reported, and there is no prior report of offspring from a patient with Hunter syndrome. In this report, we describe a woman with mild...

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PMID: 21108396
DOI: 10.1002/ajmg.a.33589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.PMID 21108396Read ↗

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Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girlSemantic proximity Read ↗

Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.Semantic proximity Read ↗

Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.Semantic proximity Read ↗

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.Semantic proximity Read ↗

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic SplicingSemantic proximity Read ↗

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