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X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.

Abstract:

We report a new kindred containing 4 patients with X-linked alpha-thalassemia/mental retardation syndrome ((ATR-X). Like previously reported ATR-X patients, these children are all genetic males with severe developmental delay and characteristic facial appearance. The genital anomalies are more severe than in most previous cases and have led to a female sex of rearing for 3 of the 4 patients. The hematologic expression is extremely mild and was not demonstrable on routine hematologic studies i...

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Publication status:
Published

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Publisher copy:
10.1002/ajmg.1320550311

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
Journal:
American journal of medical genetics
Volume:
55
Issue:
3
Pages:
302-306
Publication date:
1995-01-01
DOI:
EISSN:
1096-8628
ISSN:
0148-7299
Source identifiers:
253130
Language:
English
Keywords:
Pubs id:
pubs:253130
UUID:
uuid:37550cf1-7a88-4b5f-9c72-1e81cdce2b80
Local pid:
pubs:253130
Deposit date:
2012-12-19

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