Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model
Article Abstract:
A mouse model was used to understand the process causing skewed X-chromosome inactivation (XCI) and null mutation. It was shown that the skewed XCI results from selection against ATR-X deficient cells at specific stages of development and differentiation in different tissues.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Chromatin, X chromosome, Report
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
Article Abstract:
Pitt-Hopkins syndrome is a distinct but heterogeneous entity caused by autosomal dominant de novo mutations in TCF4. Syndrome evolves as an important differential diagnosis to Angelman and Rett syndromes because of its phenotypic overlap.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Analysis, Diagnosis, Chromosome mapping, Rett syndrome
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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Subjects list: Research, Genetic aspects, Mental retardation
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