Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH

European Journal of Human Genetics

Volumn 19, Issue 1, 2011, Pages 43-49

  Tsai, Anne Chun Hui ^a   J Dossett, Cherilyn ^a   Walton, Carol S ^a   E Cramer, Andrea ^b   Eng, Patti A ^c   Nowakowska, Beata A ^c,d   Pursley, Amber N ^c   Stankiewicz, Pawel ^c,d   Wiszniewska, Joanna ^c   Cheung, Sau Wai ^c  

^a CHILDREN S HOSPITAL COLORADO   (United States)

^b Baylor College of Medicine ^*  (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; E1A ASSOCIATED P300 PROTEIN; TESTOSTERONE;

AGGRESSION; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; EXON; FACIES; FEMALE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HEART MURMUR; HIGH ARCHED PALATE; HIRSUTISM; HUMAN; HYPERACTIVITY; HYPOTELORISM; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MILK ALLERGY; NEWBORN; PALPEBRAL FISSURE; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RUBINSTEIN SYNDROME; SELF STIMULATION; SHORT STATURE;

EID: 85027952885     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.121     Document Type: Article

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