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Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation


Book ID
110888039
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
69 KB
Volume
67
Category
Article
ISSN
0009-9163

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## Abstract We describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of late‐onset tremor and premature ovarian failure in the maternal branch of the family point