Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Med Genet A. 2005 Nov 15;139(1):37-9.

Asplenia in ATR-X syndrome: a second report.

Author information

  • 1Regional 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]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for John Wiley & Sons, Inc.
    Loading ...
    Write to the Help Desk