Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

American Journal of Human Genetics

Volumn 90, Issue 2, 2012, Pages 308-313

  Hood, Rebecca L ^a,b   Lines, Matthew A ^c   Nikkel, Sarah M ^a,c   Schwartzentruber, Jeremy ^d   Beaulieu, Chandree ^c   Nowaczyk, Małgorzata J M ^e   Allanson, Judith ^c   Kim, Chong Ae ^f   Wieczorek, Dagmar ^g   Moilanen, Jukka S ^h   Lacombe, Didier ⁱ   Gillessen Kaesbach, Gabriele ^j   Whiteford, Margo L ^k   Quaio, Caio Robledo D C ^f   Gomy, Israel ^f   Bertola, Debora R ^f   Albrecht, Beate ^g   Platzer, Konrad ^j   McGillivray, George ^l   Zou, Ruobing ^b   McLeod, D Ross ^m   Chudley, Albert E ⁿ   Chodirker, Bernard N ⁿ   Marcadier, Janet ^c   Majewski, Jacek ^d   Bulman, Dennis E ^b   White, Susan M ^l,o   Boycott, Kym M ^a,c   more..

^a UNIVERSITY OF OTTAWA   (Canada)

^b OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

^g UNIVERSITY HOSPITAL ESSEN   (Germany)

^h OULU UNIVERSITY HOSPITAL   (Finland)

ⁱ BORDEAUX UNIVERSITY HOSPITAL   (France)

^j UNIVERSITY OF LÜBECK   (Germany)

^k ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^l ROYAL CHILDREN'S HOSPITAL   (Australia)

^m UNIVERSITY OF CALGARY   (Canada)

ⁿ UNIVERSITY OF MANITOBA   (Canada)

^o UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; DNA; TRANSCRIPTION FACTOR SNF;

ADULT; ARTICLE; CHILD; CHROMATIN ASSEMBLY AND DISASSEMBLY; CODON; CONTROLLED STUDY; EXON; FEMALE; FLOATING HARBOR SYNDROME; GENE; GENE SEQUENCE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SRCAP GENE;

ABNORMALITIES, MULTIPLE; ADENOSINE TRIPHOSPHATASES; AMINO ACID MOTIFS; CHILD; CHILD, PRESCHOOL; CHROMATIN; CRANIOFACIAL ABNORMALITIES; CREB-BINDING PROTEIN; EXOME; FEMALE; GROWTH DISORDERS; HEART SEPTAL DEFECTS, VENTRICULAR; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PROTEIN BINDING; RUBINSTEIN-TAYBI SYNDROME;

EID: 84862776870     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.12.001     Document Type: Article

References (16)

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