Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability

European Journal of Medical Genetics

Volumn 56, Issue 2, 2013, Pages 108-113

  Schanze, Ina ^a   Schanze, Denny ^a   Bacino, Carlos A ^b   Douzgou, Sofia ^c   Kerr, Bronwyn ^c   Zenker, Martin ^a  

^a UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Deletion; Intellectual disability; Microarray; SOX5

Indexed keywords

CITALOPRAM; TRANSCRIPTION FACTOR SOX5;

AMNIOCENTESIS; ARTICLE; BIRTH WEIGHT; BRONCHIOLITIS; CARTILAGE CELL; CASE REPORT; CELL DIFFERENTIATION; CELL MIGRATION; CELL TYPE; CHILD; CHROMOSOME DELETION; DEPRESSION; FAMILY HISTORY; FEMALE; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; KARYOTYPE; MALE; MUSCLE HYPOTONIA; MYOPIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGODENDROGLIA; SCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; HAPLOINSUFFICIENCY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; SOXD TRANSCRIPTION FACTORS;

EID: 84873140329     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.11.001     Document Type: Article

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