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A severe mental retardation disease with defect in chromatin remodeling: ATR-X syndrome

✍ Scribed by Takahito Wada

Book ID
116774960
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
72 KB
Volume
58
Category
Article
ISSN
0168-0102

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Non-skewed X-inactivation may cause ment
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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

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New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death
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## Abstract A family with an X‐linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures