Identification of copy number variants associated with BPES-like phenotypes

Human Genetics

Volumn 124, Issue 5, 2008, Pages 489-498

  Gijsbers, Antoinet C J ^a   D'haene, Barbara ^b   Hilhorst Hofstee, Yvonne ^a   Mannens, Marcel ^c   Albrecht, Beate ^d   Seidel, Joerg ^e   Witt, David R ^f   Maisenbacher, Melissa K ^g   Loeys, Bart ^b   van Essen, Ton ^h   Bakker, Egbert ^a   Hennekam, Raoul ^c,i   Breuning, Martijn H ^a   De Baere, Elfride ^b   Ruivenkamp, Claudia A L ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

^e Klinikum Gera   (Germany)

^f Genetics Department   (United States)

^g UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CHILD; CLINICAL ARTICLE; DNA FLANKING REGION; EYE DISEASE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SINGLE NUCLEOTIDE POLYMORPHISM;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHROMOSOME ABERRATIONS; EYELIDS; FEMALE; GENE DOSAGE; GENETIC VARIATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME;

EID: 57049153978     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0574-9     Document Type: Article

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