Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome) (Q21202905)

Dimensions Publication ID

Dimensions

18 August 2022

2

Marc

Abramowicz

Marc Abramowicz

1 reference

Dimensions Publication ID

Dimensions

1005766303

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

15 October 2008

3 references

5 March 2019

22 April 2019

25 April 2019

3 references

5 March 2019

22 April 2019

25 April 2019

3

0 references

issue

1

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page(s)

28

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copyright license

Creative Commons Attribution 2.0 Generic

3 references

Europe PubMed Central

5 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

on focus list of Wikimedia project

25 April 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

19 March 2017

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Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

19 March 2017

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NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation

19 March 2017

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Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct

19 March 2017

1 reference

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19 March 2017

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Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy

12 September 2017

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Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?

12 September 2017

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Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

12 September 2017

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Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

12 September 2017

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12 September 2017

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VSX1: a gene for posterior polymorphous dystrophy and keratoconus

12 September 2017

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Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13

12 September 2017

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Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

12 September 2017

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Fuchs' endothelial dystrophy: a fresh look at an aging disease

12 September 2017

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Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping

12 September 2017

1 reference

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Congenital corneal dystrophy. Progressive sensorineural deafness in a family

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology

12 September 2017

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Serial analysis of gene expression in the corneal endothelium of Fuchs' dystrophy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

A further observation of corneal dystrophy and perceptive deafness in two siblings.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Immunohistochemical analysis of the pathogenesis of posterior polymorphous dystrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Comment on 'A further observation of corneal dystrophy and perceptive deafness in two siblings'.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2576053

Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea

29 November 2018

1 reference

12 December 2020

Congenital hereditary endothelial dystrophy associated with glaucoma

1 reference

12 December 2020

The composition of wide-spaced collagen in normal and diseased Descemet's membrane

1 reference

12 December 2020

Early-onset posterior polymorphous dystrophy

1 reference

12 December 2020

A morphological and functional study of Congenital Hereditary Endothelial Dystrophy

1 reference

12 December 2020

Congenital hereditary corneal dystrophy

1 reference

12 December 2020

The corneal endothelium. Normal and pathologic structure and function

1 reference

12 December 2020

Classification of corneal endothelial disorders based on neural crest origin

1 reference

12 December 2020

A Common Locus for Late-Onset Fuchs Corneal Dystrophy Maps to 18q21.2-q21.32

1 reference

12 December 2020

Coexistent congenital hereditary endothelial dystrophy and congenital glaucoma

1 reference

12 December 2020