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- W2189166066 abstract "Thisreportdescribes a 12year10month oldgirl withshortstature andanon-mosaic46,X,Xp + karyotype. Herheight remainedbelow-2 SD ofthemean,and herpredicted adultheight(143cm)was belowhertargetheight(155.5 cm) and targetrange(147-5 cm-163-5 cm).Cytogenetic andmolecular studies showedthat theXp+ chromosomewasformedbyan inverted duplication oftheXp2l.3-Xp22.33 segmentandwasmissing about700kbof DNA fromthepseudoautosomal region distal toDXYS15.Theresults provide furthersupportforthepreviously proposed hypothesis thatthe regionbetween DXYS20andDXYS15isthecritical region forapseudoautosomal growthgene(s)." @default.
- W2189166066 created "2016-06-24" @default.
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- W2189166066 date "1995-01-01" @default.
- W2189166066 modified "2023-09-24" @default.
- W2189166066 title "Short statureina girl withpartial monosomy of thepseudoautosomal region distal toDXYS15: further evidence fortheassignment ofthe critical region forapseudoautosomal growth" @default.
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- W2189166066 hasPublicationYear "1995" @default.
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