A new case of keratoconus associated with williams-beuren syndrome

Ophthalmic Genetics

Volumn 34, Issue 3, 2013, Pages 174-177

  Viana, Melissa Machado ^a   Frasson, Maria ^a   Leão, Letícia Lima ^a   Stofanko, Martin ^b   Gonçalves Dornelas, Higgor ^b   Cunha, Pricila Da Silva ^a   Aguiar, Marcos José Burle De ^a  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b Núcleo de Genética Médica GENE   (Brazil)

Author keywords

7q11.23; Keratoconus; Microdeletion; Williams Beuren syndrome

Indexed keywords

ELASTIN; LIM KINASE 1;

ADULT; AORTA STENOSIS; ARTICLE; ASTIGMATISM; BICUSPID AORTIC VALVE; BRACHYCEPHALY; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME DELETION; CLINICAL EXAMINATION; CLINODACTYLY; DISEASE ASSOCIATION; EDEMA; EXON; FACE DYSMORPHIA; FLUORESCENCE IMAGING; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; KERATOCONUS; KERATOMETRY; LONG PHILTRUM; MALE; OBESITY; PALPEBRAL FISSURE; PATIENT REFERRAL; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RETINA BLOOD VESSEL; RETINOGRAPHY; SCAR FORMATION; SENSITIVITY AND SPECIFICITY; SHORT STATURE; STRIA; VISUAL ACUITY; WILLIAMS BEUREN SYNDROME;

ADULT; CHROMOSOMES, HUMAN, PAIR 7; CORNEAL TOPOGRAPHY; ELASTIN; EXONS; GENE DELETION; HUMANS; KERATOCONUS; LIM KINASES; MALE; REAL-TIME POLYMERASE CHAIN REACTION; WILLIAMS SYNDROME;

EID: 84880371877     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.739257     Document Type: Article

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