Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference11 articles.
1. New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: Report on two Brazilian patients
2. Oxford Monogr;Gorlin,1995
3. Congenital Corneal Dystrophy
4. Clinical Differentiation of Recessive Congenital Hereditary Endothelial Dystrophy and Dominant Hereditary Endothelial Dystrophy
5. The Pathogenesis of Congenital Hereditary Endothelial Dystrophy of the Cornea
Cited by 10 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families;Ophthalmic Genetics;2019-03-04
2. Rehabilitation with Cochlear Implant in Patient with Harboyan Syndrome;International Archives of Otorhinolaryngology;2013-09-13
3. The genetics of Fuchs’ corneal dystrophy;Expert Review of Ophthalmology;2012-08
4. Absence of Phenotype-Genotype Correlation of Patients Expressing Mutations in the SLC4A11 Gene;Cornea;2010-03
5. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome);Orphanet Journal of Rare Diseases;2008-10-15
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