Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: The spectrum of brain MRI abnormalities

Brain and Development

Volumn 37, Issue 4, 2015, Pages 402-408

  Lee, Jin Sook ^a   Byun, Christine K ^a   Kim, Hunmin ^b   Lim, Byung Chan ^a   Hwang, Hee ^b   Choi, Ji Eun ^c   Hwang, Yong Seung ^a   Seong, Moon Woo ^d   Park, Sung Sup ^d   Kim, Ki Joong ^a   Chae, Jong Hee ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Seoul National University Bundang Hospital   (South Korea)

^c Seoul National University Boramae Hospital   (South Korea)

^d Seoul National University Hospital   (South Korea)

Author keywords

Brain MRI abnormalities; CREBBP; Genotype phenotype; HAT domain; Rubinstein Taybi syndrome (RSTS)

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; HISTONE ACETYLTRANSFERASE; CREBBP PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BRAIN; BRAIN MALFORMATION; BUDD CHIARI SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; DEMYELINATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EPILEPSY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; HUMAN; KOREAN (PEOPLE); MALE; MEDICAL RECORD REVIEW; MULTIEXON DELETION; MUTATIONAL ANALYSIS; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; RUBINSTEIN SYNDROME; SCHOOL CHILD; WECHSLER INTELLIGENCE SCALE; ASIAN CONTINENTAL ANCESTRY GROUP; CONGENITAL MALFORMATION; GENETICS; INFANT; KOREA; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; CHILD; CHILD, PRESCHOOL; CREB-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; KOREA; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; RETROSPECTIVE STUDIES; RUBINSTEIN-TAYBI SYNDROME; YOUNG ADULT;

EID: 84924909286     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.07.007     Document Type: Article

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