Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2849-2854

  Wieczorek, Dagmar ^a   Bartsch, Oliver ^b   Lechno, Stanislav ^b   Kohlhase, Jürgen ^c   Peters, Dorien J M ^d   Dauwerse, Hans ^d   Gillessen Kaesbach, Gabriele ^a,e   Hennekam, Raoul C M ^f,g   Passarge, Eberhard ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c Praxis fur Humangenetik   (Germany)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF LÜBECK   (Germany)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Camptodactyly of fingers; Glaucoma; Keloids; Normocephaly; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; E1A ASSOCIATED P300 PROTEIN;

ADULT; ANAMNESIS; ARTICLE; CAMPTODACTYLY; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CLINICAL FEATURE; FEMALE; FINGER MALFORMATION; GENE MUTATION; GLAUCOMA; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; KELOID; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RUBINSTEIN SYNDROME;

ADULT; CHILD; CHILD, PRESCHOOL; FACIES; FATAL OUTCOME; FEMALE; GLAUCOMA; GROWTH AND DEVELOPMENT; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; PREGNANCY; RUBINSTEIN-TAYBI SYNDROME; SKULL;

EID: 71949108910     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33129     Document Type: Article

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