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

Asplenia in ATR-X syndrome: a second report.

Leahy RT, Philip RK, Gibbons RJ, Fisher C, Suri M, Reardon W.

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Regional Hospital, Limerick, Ireland.

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.

PMID:: 16222662; [PubMed - indexed for MEDLINE]

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A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. [Eur J Hum Genet. 1996]
A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
Villard L, Lacombe D, Fontés M. Eur J Hum Genet. 1996; 4(6):316-20.
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Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, Fellous M, McElreavey K. Am J Hum Genet. 1996 Jun; 58(6):1185-91.
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Review [X-linked alpha-thalassemia/mental retardation syndrome].
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