TY  - GEN
AU  - Fichera,M
AU  - Falco,M
AU  - Lo Giudice,M
AU  - Castiglia,L
AU  - Guarnaccia,V
AU  - Calì,F
AU  - Spalletta,A
AU  - Scuderi,C
AU  - Avola,E
TI  - Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation
SN  - 0009-9163
PY  - 2005///0712
KW  - Adult
KW  - Carrier Proteins
KW  - genetics
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Dosage Compensation, Genetic
KW  - Genotype
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Nuclear Proteins
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't; Comment
UR  - https://doi.org/10.1111/j.1399-0004.2005.00436.x
ER  -