Journal article
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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Authors
Bibliographic Details
- 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
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:253130
- UUID:
-
uuid:37550cf1-7a88-4b5f-9c72-1e81cdce2b80
- Local pid:
- pubs:253130
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 1995
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