A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.
A
A
Charzewska
S
S
Rzońca
Genetic Counseling, University Children's Hospital of Cracow, Cracow, Poland.
M
M
Janeczko
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
M
M
Nawara
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
M
M
Smyk
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
J
J
Bal
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
D
D
Hoffman-Zacharska
D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D015870:Gene Expression; D050172:Genes, X-Linked; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree
C000598871:NEXMIF protein, human; D009419:Nerve Tissue Proteins