Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities

American Journal of Ophthalmology

Volumn 141, Issue 3, 2006, Pages

  Tocyap, Mary Lillian ^a   Azar, Nathalie ^a   Chen, Teresa ^a   Wiggs, Janey ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME DELETION; CLINICAL EXAMINATION; CNA1 GENE; CNA2 GENE; CORNEA; EYE DISEASE; GENE; GENETIC TRAIT; HUMAN; KERA GENE; MALE; MYOPIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SLRP GENE;

EID: 33144472095     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2005.09.024     Document Type: Article

References (7)

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4. T.L. Young, S.M. Ronan, A.B. Alvear A second locus for familial high myopia maps to chromosome 12q Am J Hum Genet 63 1998 1419 1424
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6. P.A. James, P. Oei, D. Ng, P. Kannu, S. Aftimos Another case of interstitial del(12) involving the prosposed cardio-facio-cutaneous candidate region Am J Med Genet A 136 2005 12 16
7. C.Y. Liu, D.E. Birk, J.R. Hassell, B. Kane, W.W. Kao Keratocan-deficient mice display alterations in corneal structure J Biol Chem 278 2003 21672 21677