Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2005.00436.x/fullpdf
Reference5 articles.
1. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1);Kleefstra;Clin Genet,2004
2. A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?;Fichera;J Med Genet,2002
3. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR;Kubota;Hum Genet,1999
4. An assay for X inactivation based on differential methylation at the fragile X locus, FMR1;Carrel;Am J Med Genet,1996
5. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation;Kalscheuer;Nat Genet,2003
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2. The Impact of X-Chromosome Inactivation on Phenotypic Expression of X-Linked Neurodevelopmental Disorders;Brain Sciences;2021-07-09
3. Renpenning syndrome in a female;American Journal of Medical Genetics Part A;2019-12-16
4. In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells;Molecular Psychiatry;2014-07-29
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