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- W2032283160 abstract "Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus." @default.
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- W2032283160 date "2005-10-12" @default.
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- W2032283160 title "Asplenia in ATR-X syndrome: A second report" @default.
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- W2032283160 doi "https://doi.org/10.1002/ajmg.a.30990" @default.
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