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Mutation of the XNP/ATR-X Gene in a Family with Severe Mental Retardation, Spastic Paraplegia and Skewed Pattern of X Inactivation: Demonstration that the Mutation is Involved in the Inactivation Bias

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X-linked mental retardation
Spastic paraplegia
Skewed X-inactivation
XNP
ATR-X syndrome

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The first two authors contributed equally to this work.

Copyright © 1999 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.