Genotype-phenotype correlations in Rubinstein-Taybi syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 19, 2008, Pages 2512-2519

  Schorry, E K ^a   Keddache, M ^a   Lanphear, N ^a   Rubinstein, J H ^a   Srodulski, S ^a   Fletcher, D ^a   Blough Pfau, R I ^b   Grabowski, G A ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b Dayton Children's Hospital   (United States)

Author keywords

Autism; CREB binding protein; CREBBP; Genotype; Growth retardation; Phenotype; Rubinstein Taybi syndrome

Indexed keywords

ARTICLE; BODY HEIGHT; BODY WEIGHT; CHROMOSOME DELETION; CREBBP GENE; DNA SEQUENCE; EXON; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SEIZURE;

ALTERNATIVE SPLICING; AMINO ACID SUBSTITUTION; AUTISTIC DISORDER; COHORT STUDIES; CREB-BINDING PROTEIN; EXONS; GENE DELETION; GENOTYPE; GROWTH DISORDERS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; RETROSPECTIVE STUDIES; RUBINSTEIN-TAYBI SYNDROME;

EID: 55449087106     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32424     Document Type: Article

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