Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features

Pediatric Neurology

Volumn 48, Issue 4, 2013, Pages 317-320

  Lee, Ryan W Y ^a   Bodurtha, Joann ^b   Cohen, Julie ^a   Fatemi, Ali ^a   Batista, Denise ^a,b  

^a KENNEDY KRIEGER INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SOX5; SOX5 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ARTICLE; CASE REPORT; CHILD; CHILD DEVELOPMENT; CHROMOSOME 12P; CHROMOSOME DELETION; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; LEARNING DISORDER; MALE; MOTOR DYSFUNCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; ADULT; CHROMOSOME 12; DEVELOPMENTAL DISABILITIES; FACE; GENETICS;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; HUMANS; MALE; SOXD TRANSCRIPTION FACTORS;

EID: 84875170884     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.12.013     Document Type: Article

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