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Am J Med Genet A. 2005 Nov 15;139(1):37-9.

Asplenia in ATR-X syndrome: a second report.

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  • 1Regional Hospital, Limerick, Ireland.


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.

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