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Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.
Arch Dis Child. 1983 Nov;58(11):911-5. doi: 10.1136/adc.58.11.911.
2
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.
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3
Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.
J Formos Med Assoc. 1998 Mar;97(3):186-90.
4
Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation.
Clin Genet. 1986 Nov;30(5):392-8. doi: 10.1111/j.1399-0004.1986.tb01896.x.
5
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation.
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6
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).
Hum Genet. 1991 Jun;87(2):205-6. doi: 10.1007/BF00204183.
7
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
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8
Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
J Inherit Metab Dis. 1992;15(3):342-6. doi: 10.1007/BF02435972.
9
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Am J Med Genet A. 2014 Oct;164A(10):2627-32. doi: 10.1002/ajmg.a.36667. Epub 2014 Jul 8.
10
Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.
Am J Med Genet. 1992 Dec 1;44(6):834-8. doi: 10.1002/ajmg.1320440625.
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Dosage Compensation in Females with X-Linked Metabolic Disorders.
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Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
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3
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.
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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
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Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
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Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
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Clinical and biochemical studies in mucopolysaccharidosis type II carriers.
J Inherit Metab Dis. 2009 Dec;32(6):732-738. doi: 10.1007/s10545-009-1275-9. Epub 2009 Oct 10.
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Long-term follow-up following bone marrow transplantation for Hunter disease.
J Inherit Metab Dis. 1999 Jun;22(5):638-48. doi: 10.1023/a:1005525931994.
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Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
J Med Genet. 1993 Sep;30(9):713-27. doi: 10.1136/jmg.30.9.713.
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Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.
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Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.
J Med Genet. 1981 Dec;18(6):442-7. doi: 10.1136/jmg.18.6.442.
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Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.
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Abnormal X chromosomes in man: origin, behavior and effects.
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Calculation of genetic risks in Duchenne muscular dystrophy by geneticists in the United Kingdom.
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The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?
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