Clin Genet. 1977 May;11(5):319-26.

Mild and severe Hunter syndrome (MPS II) within the same sibships.

Abstract

X-linked Hunter syndrome (MPS II) is presently thought to exist in two clinically and genetically distinct forms, mild and severe, which are biochemically indistinguishable. However, two sibships have been studied in which both mildy and severely affected children are present. Therefore, genetic counseling for families with MPS II should be reconsidered to take into account the possibility of heterogeneity within a family in terms of the degree of psychomotor retardation and potential longevity.

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Cited by 4 PubMed Central articles

Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing. [PLoS One. 2011]
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