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Two Female Patients With Xq27.3q28 Deletion And Skewed X-Inactivation Display Similar Phenotypes As Hunter Syndrome

K. Katoh,K. Aiba,D. Fukushi, Y. Suzuki,K. Yamada,N. Wakamatsu

JOURNAL OF THE NEUROLOGICAL SCIENCES（2017）

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Abstract
Background: Typically, in female cells, one of the two X chromosomes is randomly inactivated for dosage compensation. However, skewed X-inactivation may occur, resulting in female patients exhibiting different phenotypes.
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Key words
hunter syndrome,similar phenotypes,x-inactivation
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