Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation. [electronic resource]
- Clinical genetics May 2005
- 446-7 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't; Comment
0009-9163
10.1111/j.1399-0004.2005.00436.x doi
Adult Carrier Proteins--genetics DNA Mutational Analysis DNA-Binding Proteins Dosage Compensation, Genetic Genotype Humans Intellectual Disability--genetics Male Nuclear Proteins--genetics Pedigree Phenotype