Article
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
American journal of medical genetics. Part A - 1 Feb 2018
Ficicioglu Can, Giugliani Roberto, Harmatz Paul, Mendelsohn Nancy J, Jego Virginie, Parini Rossella
Abstract excerpt
Several cases of phenotypic variability among family members with mucopolysaccharidosis type II (MPS II) have been reported, but the data are limited. Data from patients enrolled in the Hunter Outcome Survey (HOS) were used to investigate intrafamilial variability in male siblings with MPS II. As of July 2015, data were available for 78 patients aged ≥5 years at last visit who had at least one affected sibling...
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