Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.
Fichera
M
M
Falco
M
M
Lo Giudice
M
M
Castiglia
L
L
Guarnaccia
V
V
Calì
F
F
Spalletta
A
A
Scuderi
C
C
Avola
E
E
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
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C119246:PQBP1 protein, human