Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Clinical Genetics

Volumn 88, Issue 5, 2015, Pages 431-440

  Spena, S ^a   Milani, D ^b   Rusconi, D ^a   Negri, G ^a   Colapietro, P ^a   Elcioglu, N ^c   Bedeschi, F ^b   Pilotta, A ^d   Spaccini, L ^e   Ficcadenti, A ^f   Magnani, C ^g   Scarano, G ^h   Selicorni, A ⁱ   Larizza, L ^a,j   Gervasini, C ^a  

^a UNIVERSITY OF MILAN   (Italy)

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

^c MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^d SPEDALI CIVILI   (Italy)

^e V BUZZI CHILDREN S HOSPITAL   (Italy)

^f UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^g UNIVERSITY OF PARMA   (Italy)

^h G RUMMO HOSPITAL   (Italy)

ⁱ SAN GERARDO HOSPITAL   (Italy)

^j ISTITUTO AUXOLOGICO ITALIANO   (Italy)

more..

Author keywords

Bromo KIX HAT domain; CREBBP; Genotype phenotype correlation; Point mutation; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; MUTANT PROTEIN; CREBBP PROTEIN, HUMAN;

ANTHROPOMETRIC PARAMETERS; ARTICLE; BIOINFORMATICS; CHILD; CLINICAL ARTICLE; CLINICAL STUDY; COHORT ANALYSIS; CONTROLLED STUDY; EPICANTHUS; EYEBROW; EYELID DISEASE; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTRICHOSIS; MALE; MANAGED CARE; MISSENSE MUTATION; MOLECULAR BIOLOGY; NONSENSE MUTATION; PATIENT CARE; POINT MUTATION; PRIORITY JOURNAL; PROGNOSIS; RECURRENT DISEASE; RUBINSTEIN SYNDROME; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; COMPUTER SIMULATION; DNA MUTATIONAL ANALYSIS; GENETICS; GENOTYPE; INFANT; METABOLISM; MOLECULAR GENETICS; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE ALIGNMENT; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; COMPUTER SIMULATION; CREB-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; RUBINSTEIN-TAYBI SYNDROME; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 84943354591     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12537     Document Type: Article

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