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Self-induced vomiting in X-linked α-thalassemia/mental retardation syndrome

✍ Scribed by Kurosawa, Kenji ;Akatsuka, Akira ;Ochiai, Yukikatsu ;Ikeda, Jun ;Maekawa, Kihei

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
153 KB
Volume
63
Category
Article
ISSN
0148-7299

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Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X
✍ Takahito Wada; Hideo Sugie; Yoshimitsu Fukushima; Shinji Saitoh 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views

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