Asplenia in ATR-X syndrome: a second report.

Journal article

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.

Authors: Leahy, RT; Philip, R; Gibbons, R; Fisher, C; Suri, M

• Publication status: Published
• Journal: American journal of medical genetics. Part A More from this journal
• Volume: 139
• Issue: 1
• Pages: 37-39
• Publication date: 2005-11-01
• DOI: 10.1002/ajmg.a.30990
• EISSN: 1552-4833
• ISSN: 1552-4825
• Language: English
• Keywords: DNA Helicases; Nuclear Proteins; Mutation; Male; Syndrome; Pneumococcal Infections; Spleen; Humans; Intellectual Disability; Infant, Newborn; Abnormalities, Multiple