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• W2018784174 abstract "Familial X-chromosome inactivation (XCI) skewing was investigated in a family in which a female mucopolysaccharidosis type II (MPS II) (Hunter syndrome, an X-linked genetic disease) occurred. Among eight related females aged under 60 years from three generations who were tested, four revealed a non-random pattern of XCI. Detailed genetic analysis failed to find mutations in genes that were previously reported as important for the XCI process. Haplotype analysis excluded linkage of non-random XCI with genes localized on the X-chromosome. We propose that analysis of the XCI pattern should be taken into consideration when assessing risk factors for X-linked recessive genetic disorders." @default.
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• W2018784174 date "2010-11-10" @default.
• W2018784174 modified "2023-10-03" @default.
• W2018784174 title "Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders" @default.
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• W2018784174 doi "https://doi.org/10.1111/j.1399-0004.2010.01574.x" @default.
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