Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

American Journal of Medical Genetics, Part A

Volumn 167, Issue 11, 2015, Pages 2548-2554

  Nesbitt, Addie ^a   Bhoj, Elizabeth J ^a   McDonald Gibson, Kristin ^a   Yu, Zhenming ^a   Denenberg, Elizabeth ^a   Sarmady, Mahdi ^a   Tischler, Tanya ^a   Cao, Kajia ^a   Dubbs, Holly ^a   Zackai, Elaine H ^a   Santani, Avni ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

12p12; 12p12 microdeletion syndrome; Intellectual disability; SOX gene family; SOX5; SOX5 associated intellectual disability syndrome; SRY BOX5; SRY related HMG box gene 5; Whole exome sequencing

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR SOX5; SOX5 PROTEIN, HUMAN; STOP CODON; TRANSCRIPTION FACTOR SOX;

ADOLESCENT; ANXIETY; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; FACE DYSMORPHIA; FEMALE; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LOSS OF FUNCTION MUTATION; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; SCOLIOSIS; SEQUENCE ANALYSIS; SOX5 GENE; STOP CODON; WHOLE EXOME SEQUENCING; ADULT; DNA SEQUENCE; EXOME; EXON; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

ADOLESCENT; ADULT; BASE SEQUENCE; CODON, NONSENSE; EXOME; EXONS; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MOLECULAR SEQUENCE DATA; SEQUENCE ANALYSIS, DNA; SOXD TRANSCRIPTION FACTORS;

EID: 84947031550     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37221     Document Type: Article

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