CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype

American Journal of Medical Genetics, Part A

Volumn 170, Issue 10, 2016, Pages 2681-2693

  Menke, Leonie A ^a   van Belzen, Martine J ^b   Alders, Marielle ^a   Cristofoli, Francesca ^c   Ehmke, Nadja ^e   Fergelot, Patricia ^f   Foster, Alison ^g   Gerkes, Erica H ^h   Hoffer, Mariëtte J V ^b   Horn, Denise ^e   Kant, Sarina G ^b   Lacombe, Didier ^f   Leon, Eyby ⁱ   Maas, Saskia M ^a   Melis, Daniela ^j   Muto, Valentina ^k   Park, Soo Mi ^l   Peeters, Hilde ^c   Peters, Dorien J M ^b   Pfundt, Rolph ^m   van Ravenswaaij Arts, Conny M A ^h   Tartaglia, Marco ^k   Hennekam, Raoul C M ^a   more..

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^j UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^k BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^l CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^m RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

case series; clinical features; CREBBP; exon 30; exon 31; genotype phenotype correlation; intellectual disability; mutation; RSTS; Rubinstein Taybi syndrome; syndrome; whole exome sequencing

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

ANTEVERTED NOSTRIL; ARTICLE; AUTISM; AUTOMUTILATION; CHILD; CLINICAL ARTICLE; CREBBP GENE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; EXOME; EXOME SEQUENCING; EXON; FEEDING DIFFICULTY; FEMALE; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; LONG PHILTRUM; MALE; MICROCEPHALY; MISSENSE MUTATION; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT NOSE; SHORT STATURE; SPEECH DELAY; TELECANTHUS; UPPER RESPIRATORY TRACT INFECTION; ADOLESCENT; ADULT; ALLELE; AMINO ACID SEQUENCE; FACIES; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CREB-BINDING PROTEIN; EXOME; EXONS; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; RUBINSTEIN-TAYBI SYNDROME; YOUNG ADULT;

EID: 84977583323     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37800     Document Type: Article

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