Ocular anomalies associated with interstitial deletion of chromosome 2q31: Case report and review

Ophthalmic Genetics

Volumn 28, Issue 2, 2007, Pages 105-109

  Gambrelle, Joël ^a   Till, Marianne ^b   Lukusa, Bibi ^a   Beby, Francis ^b   Mory, Nathalie ^a   Sann, Léon ^a   Kodjikian, Laurent ^a   Grange, Jean Daniel ^a   Putet, Guy ^a  

^a CROIX ROUSSE HOSPITAL   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

Blepharophimosis; Interstitial deletion of chromosome 2q; Microphthalmia; Uveal coloboma

Indexed keywords

ATRIOVENTRICULAR CANAL; BLEPHAROPHIMOSIS; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME DELETION; CLINICAL FEATURE; COLOBOMA; CORNEA OPACITY; DISEASE ASSOCIATION; EYE DEVELOPMENT; EYE MALFORMATION; FACE MALFORMATION; FEMALE; FOOT MALFORMATION; GROWTH RETARDATION; HAND MALFORMATION; HUMAN; HYPOPLASIA; MICROCEPHALY; MICROPHTHALMIA; NEWBORN; OVARIAN HYPOPLASIA; PALPEBRAL FISSURE; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; REVIEW; UVEA COLOBOMA;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; MICROPHTHALMOS;

EID: 34250197582     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701351305     Document Type: Review

References (9)

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