A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome

Gene

Volumn 499, Issue 1, 2012, Pages 182-185

  Lai, Angeline H M ^a   Brett, Maggie S ^a   Chin, Wai Hoe ^a   Lim, Eileen C P ^a   Ng, Jasmine S H ^a   Tan, Ene Choo ^a,b  

^a KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

CREBBP; DNASE 1; Microdeletion; Rubinstein Taybi syndrome; TRAP 1

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

ARTICLE; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTIPATION; DEVELOPMENTAL DISORDER; GENE DELETION; GENE SEQUENCE; HUMAN; MALE; POLYDACTYLY; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SCHOOL CHILD;

ADOLESCENT; BASE SEQUENCE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CREB-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE DELETION; SIBLINGS;

EID: 84859783222     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.02.043     Document Type: Article

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