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

Fichera, M

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