[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual impairment, mus...
| 主要な著者: | , , , , , , , |
|---|---|
| フォーマット: | Journal article |
| 言語: | Polish |
| 出版事項: |
2011
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