Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to harboyan syndrome

Cornea

Volumn 33, Issue 3, 2014, Pages 247-251

  Siddiqui, Salina ^a,b   Zenteno, Juan Carlos ^c,d   Rice, Aine ^a,b   Chacón Camacho, Oscar ^d   Naylor, Steven G ^b   Rivera De La Parra, David ^d   Spokes, David M ^b   James, Nigel ^e   Toomes, Carmel ^a   Inglehearn, Chris F ^a   Ali, Manir ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^d INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^e BRADFORD ROYAL INFIRMARY   (United Kingdom)

Author keywords

Corneal endothelial dystrophy; Harboyan syndrome; Sensorineural hearing loss; SLC4A11

Indexed keywords

ADOLESCENT; ADULT; ANION TRANSPORT PROTEINS; ANTIPORTERS; AUDIOMETRY; CORNEAL DYSTROPHIES, HEREDITARY; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ENDOTHELIUM, CORNEAL; EXONS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84894060050     PISSN: 02773740     EISSN: 15364798     Source Type: Journal    
DOI: 10.1097/ICO.0000000000000041     Document Type: Article

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