X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is a syndromic form of X-linked mental retardation. We investigated the X-inactivation status of nine female ATR-X carriers by methylation-specific PCR of the HUMARA gene. Six carriers demonstrated a skewed X-inactivation pattern (>90:10
Partial ATRX gene duplication causes ATR-X syndrome
β Scribed by Dianne M. Cohn; Roberta A. Pagon; Louanne Hudgins; Charles E. Schwartz; Roger E. Stevenson; Michael J. Friez
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 135 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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