SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families-Reference-Cited by-同舟云学术

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families

Published:2021-10-12 Issue:11 Volume:48 Page:7467-7476
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Firasat Sabika^ORCID,Dur-e-Shawar ,Khan Wajid Ali,Sughra Ume,Nousheen ,Kaul Haiba,Naz Shagufta,Noreen Bushra,Gul Rutaba,Afshan Kiran

Funder

Quaid-i-Azam University

Higher Education Commission, Pakistan

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-021-06765-4.pdf

Reference37 articles.

1. Patel SP, Parker MD (2015) SLC4A11 and the pathophysiology of congenital hereditary endothelial dystrophy. Biomed Res Int 2015:475392. https://doi.org/10.1155/2015/475392

2. Desir J, Abramowicz M (2008) Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). Orphanet J Rare Dis 3:28. https://doi.org/10.1186/1750-1172-3-28

3. Toma NM, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS (1995) Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet 4:2395–2398. https://doi.org/10.1093/hmg/4.12.2395

4. Mohamed MD, McKibbin M, Jafri H, Rasheed Y, Woods CG, Inglehearn CF (2001) A new pedigree with recessive mapping to CHED2 locus on 20p13. Br J Ophthalmol 85:758–759. https://doi.org/10.1136/bjo.85.6.754d

5. Aldave AJ, Han J, Frausto RF (2013) Genetics of the corneal endothelial dystrophies: an evidence-based review. Clin Genet 84:109–119. https://doi.org/10.1111/cge.12191

Cited by 6 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. Cornea and Sclera;Ocular Pathology;2025

2. Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms;Progress in Retinal and Eye Research;2024-09

3. Corneal transplantation in children - when and how?;Expert Review of Ophthalmology;2023-01-02

4. Clinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities;Taiwan Journal of Ophthalmology;2023

5. Updates on congenital hereditary endothelial dystrophy;Taiwan Journal of Ophthalmology;2023