title: Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
authors.forename: M
authors.initials: M
authors.lastname: Fichera
authors.forename: M
authors.initials: M
authors.lastname: Falco
authors.forename: M
authors.initials: M
authors.lastname: Lo Giudice
authors.forename: L
authors.initials: L
authors.lastname: Castiglia
authors.forename: V
authors.initials: V
authors.lastname: Guarnaccia
authors.forename: F
authors.initials: F
authors.lastname: Calì
authors.forename: A
authors.initials: A
authors.lastname: Spalletta
authors.forename: C
authors.initials: C
authors.lastname: Scuderi
authors.forename: E
authors.initials: E
authors.lastname: Avola
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D004303:Dosage Compensation, Genetic; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C119246:PQBP1 protein, human