Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management

Italian Journal of Pediatrics

Volumn 41, Issue 1, 2015, Pages

  Milani, Donatella ^a   Manzoni, Francesca Maria Paola ^a   Pezzani, Lidia ^a   Ajmone, Paola ^b   Gervasini, Cristina ^a   Menni, Francesca ^a   Esposito, Susanna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

CREBBP; Intellectual disability; Plurimalformative syndrome; Rubinstein syndrome; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; E1A ASSOCIATED P300 PROTEIN; CREBBP PROTEIN, HUMAN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; EP300 PROTEIN, HUMAN;

BODY HEIGHT; BODY WEIGHT; CLINICAL FEATURE; CLINICAL PROTOCOL; DIAGNOSTIC TEST; FACE DYSMORPHIA; FACE PROFILE; FOLLOW UP; GENE MUTATION; GENE THERAPY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MICROCEPHALY; PATIENT CARE; PRACTICE GUIDELINE; RARE DISEASE; REVIEW; RUBINSTEIN SYNDROME; TRANSITIONAL CARE; CHILD; GENETIC ASSOCIATION STUDY; GENETICS; RUBINSTEIN-TAYBI SYNDROME;

CHILD; CREB-BINDING PROTEIN; E1A-ASSOCIATED P300 PROTEIN; GENETIC ASSOCIATION STUDIES; HUMANS; RUBINSTEIN-TAYBI SYNDROME;

EID: 84989291075     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: 10.1186/s13052-015-0110-1     Document Type: Review

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