Hojka Gregoric Kumperscak Danijela Krgovic Nadja Kokalj Vokac
10.1177/0300060515595651
J Int Med Res
2016 Apr;44(2):395-402.
2q32q33 microdeletion syndrome satb2 gene behavioural problems developmental delay secondary cognitive decline
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/26811410/
Abnormalities, Multiple / genetics Aggression / psychology Cognitive Dysfunction / genetics Hysteria / physiopathology Intellectual Disability / genetics Self-Injurious Behavior / physiopathology
Abnormalities, Multiple / genetics Aggression / psychology Cognitive Dysfunction / genetics Hysteria / physiopathology Intellectual Disability / genetics Self-Injurious Behavior / physiopathology Case Reports Research Support, Non-U.S. Gov't Abnormalities, Multiple / diagnosis Abnormalities, Multiple / physiopathology Adult Chromosome Breakpoints Chromosome Deletion Chromosomes, Human, Pair 2 / genetics Cognitive Dysfunction / diagnosis Cognitive Dysfunction / physiopathology Female Glutaminase / deficiency Glutaminase / genetics Humans Hysteria / psychology Intellectual Disability / diagnosis Intellectual Disability / physiopathology Karyotyping Matrix Attachment Region Binding Proteins / deficiency Matrix Attachment Region Binding Proteins / genetics Membrane Proteins / deficiency Membrane Proteins / genetics Myosin Type I / deficiency Myosin Type I / genetics Neoplasm Proteins / deficiency Neoplasm Proteins / genetics Phenotype Phosphoric Monoester Hydrolases / deficiency Phosphoric Monoester Hydrolases / genetics Self-Injurious Behavior / psychology Transcription Factors / deficiency Transcription Factors / genetics MYO1B protein, human Matrix Attachment Region Binding Proteins Membrane Proteins Neoplasm Proteins SATB2 protein, human TMEFF2 protein, human Transcription Factors PGAP1 protein, human Phosphoric Monoester Hydrolases GLS protein, human Glutaminase Myosin Type I Chromosome 2q32-Q33 Deletion Syndrome
PMC5580054
26811410
Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1
2016