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PMID: 1770527 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

Journal of medical genetics ·Vol. 28 ·No. 11 ·1991-11-00 ·Pages 729-33

Gibbons RJ, Wilkie AO, Weatherall DJ, Higgs DR

Abstract

暂无摘要

MeSH Terms
Female Genetic Linkage Globins/genetics Hemoglobin H/genetics Heterozygote Humans Intellectual Disability/complications,genetics Male Syndrome Thalassemia/blood,complications,genetics Transcriptional Activation X Chromosome
Chemicals
Globins Hemoglobin H
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Gibbons R J
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford.
Wilkie A O
Weatherall D J
Higgs D R
References (11)
11 references, click to expand
  1. Globin gene regulation and switching: circa 1990.
    Cell. 1990 Nov 16;63(4):665-72 PMID: 2225071
  2. The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
    J Med Genet. 1991 Oct;28(10):724 PMID: 1941971
  3. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?
    N Engl J Med. 1981 Sep 10;305(11):607-12 PMID: 6267462
  4. Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
    J Med Genet. 1990 May;27(5):339-40 PMID: 2352265
  5. Opinion: predictive testing for Huntington disease in childhood: challenges and implications.
    Am J Hum Genet. 1990 Jan;46(1):1-4 PMID: 2136787
  6. The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
    J Med Genet. 1991 Nov;28(11):742-5 PMID: 1770530
  7. A review of the molecular genetics of the human alpha-globin gene cluster.
    Blood. 1989 Apr;73(5):1081-104 PMID: 2649166
  8. Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.
    J Med Genet. 1990 Sep;27(9):577-81 PMID: 2231651
  9. Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.
    J Med Genet. 1991 Nov;28(11):734-7 PMID: 1770528
  10. X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
    J Med Genet. 1991 Nov;28(11):738-41 PMID: 1770529
  11. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.
    Am J Hum Genet. 1990 Jun;46(6):1112-26 PMID: 2339704
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.28.11.729
Published
1991-11-00
Pages
729-33
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1017105
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.28.11.729 PMC Full Text View journal details
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