Keratoconus associated with chromosome 13 ring abnormality [5]

British Journal of Ophthalmology

Volumn 84, Issue 9, 2000, Pages 1079-

  Heaven, C J ^a   Lalloo, F ^a   McHale, E ^a  

^a ROYAL ALBERT EDWARD INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FEMALE; GENETIC LINKAGE; HUMAN; KARYOTYPE 46,XX; KERATOCONUS; LETTER; OTITIS MEDIA; PRIORITY JOURNAL; RECURRENT INFECTION; SLIT LAMP; STRUCTURAL CHROMOSOME ABERRATION; TOPOGRAPHY; VISUAL IMPAIRMENT;

ADULT; CASE REPORT; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; HUMAN; KARYOTYPING; KERATOCONUS; RING CHROMOSOMES; VISUAL ACUITY;

EID: 0033833616     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (3)

1. Ring chromosome 13: Lack of distinct syndromes based on different breakpoints on 13q
2. Keratoconus (major review)
3. The genes coding for human pro alpha-1 (IV) collagen are both located at the end of the long arm of chromosome 13