Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

American Journal of Medical Genetics

Volumn 72, Issue 2, 1997, Pages 227-236

  Ravine, David ^a   Ragge, Nicola K ^b   Stephens, Dafydd ^a   Oldridge, Michael ^c   Wilkie, Andrew O M ^c  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b WESTERN EYE HOSPITAL   (United Kingdom)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

Anencephaly; Cataract; Cavernous optic disc anomaly; Chorioretinal coloboma; Cleft lip and palate; Dominant inheritance; Iris coloboma; Learning difficulties; Microphthalmos; Oculomotor impairment; Optic nerve pit; Sensorineural deafness

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLEFT LIP PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COLOBOMA; DISEASE ASSOCIATION; FEMALE; HEMATURIA; HUMAN; INHERITANCE; MALE; MICROPHTHALMIA; PEDIGREE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; COLOBOMA; FEMALE; GENES, DOMINANT; HEARING LOSS, SENSORINEURAL; HEMATURIA; HUMANS; MALE; MICROPHTHALMOS; MIDDLE AGED; PEDIGREE; SYNDROME;

EID: 0030830183     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971017)72:2<227::AID-AJMG19>3.0.CO;2-P     Document Type: Article

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