Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23)

Ophthalmic Genetics

Volumn 29, Issue 1, 2008, Pages 37-40

  Tzschach, Andreas ^a   Kelbova, Christina ^b   Weidensee, Sabine ^c   Peters, Hartmut ^d   Ropers, Hans Hilger ^a   Ullmann, Reinhard ^a   Erdogan, Fikret ^a   Jurkatis, Jan ^a   Menzel, Corinna ^a   Kalscheuer, Vera ^a   Demuth, Stephanie ^c  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Institut fur Medizinische Genetik   (Germany)

^c Praxis für Humangenetik Erfurt   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Balanced chromosome translocation; Blepharophimosis ptosis epicanthus inversus syndrome; BPES; FOXL2; Premature ovarian failure

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 2; CHROMOSOME TRANSLOCATION 3; CLINICAL FEATURE; EPICANTHUS; EYE EXAMINATION; FEMALE; GENE LOCUS; GENE MUTATION; HUMAN; MEDICAL PARAMETERS; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; NOSE; SKIN ABNORMALITIES; SYNDROME; TRANSLOCATION, GENETIC;

EID: 41149158626     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701867615     Document Type: Article

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