The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.

Journal of medical genetics ·Vol. 28 ·No. 10 ·1991-10-00 ·Pages 724

Wilkie AO, Pembrey ME, Gibbons RJ, Higgs DR, Porteous ME, Burn J, Winter RM

Abstract

暂无摘要

MeSH Terms

Adult Child Genetic Linkage Humans Intellectual Disability/genetics Male Thalassemia/genetics X Chromosome

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Wilkie A O

Pembrey M E

Gibbons R J

Higgs D R

Porteous M E

Burn J

Winter R M

References (4)

4 references, click to expand

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
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
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
Opinion: predictive testing for Huntington disease in childhood: challenges and implications.
Am J Hum Genet. 1990 Jan;46(1):1-4 PMID: 2136787

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

Published

1991-10-00

Pages

724

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1017065

Subset

External Links

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