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Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients

T Kalezić

T Kalezić

School of Medicine, University of Belgrade; Clinic for Eye Disease, University Clinical Centre of SerbiaBelgrade, Serbia
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Kalezić, T
, 
I Vuković

I Vuković

School of Medicine, University of Belgrade; Clinic for Gynecology and Obstetrics, University Clinical Centre of SerbiaBelgrade, Serbia
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Vuković, I
, 
M Stojković

M Stojković

School of Medicine, University of Belgrade; Clinic for Eye Disease, University Clinical Centre of SerbiaBelgrade, Serbia
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Stojković, M
, 
S Stanojlović

S Stanojlović

School of Medicine, University of Belgrade; Clinic for Eye Disease, University Clinical Centre of SerbiaBelgrade, Serbia
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Stanojlović, S
, 
J Karanović

J Karanović

University of Belgrade, Faculty of Biology, Center for Human Molecular GeneticsBelgrade, Serbia
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Karanović, J
, 
G Brajušković

G Brajušković

University of Belgrade, Faculty of Biology, Center for Human Molecular GeneticsBelgrade, Serbia
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Brajušković, G
 et 
D Savić-Pavićević

D Savić-Pavićević

University of Belgrade, Faculty of Biology, Center for Human Molecular GeneticsBelgrade, Serbia
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Savić-Pavićević, D
  
01 mars 2023
Keratitis-ichthyosis-deafness syndrome with heterozygous p.D50N in the GJB2 gene in two Serbian adult patients's Cover Image
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Catégorie d'article: Case report
Publié en ligne: 01 mars 2023
Pages: 79 - 84
DOI: https://doi.org/10.2478/bjmg-2022-0014
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© 2022 Kalezić T., Vuković I., Stojković M., Stanojlović S., Karanović J., Brajušković G., Savić-Pavićević D., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Mutation analysis of GJB2 gene region associated with KID in two unrelated female patients. (A) Patient 1, thickening and keratinization of eyelid margins, lash loss, cornea showing a rim of abnormal epithelium with superficial neovascularization peripheral, significant stromal scarring with extensive neovascularization. (A1) Sequencing chromatograms showing the GJB2 heterozygous transition c.148G>A in first patient. (A2) Unaffected mother of patient 1. (B) Patient 2, thickening and keratinization of eyelid margins, lash loss, diffuse opacification of cornea and loss of conjunctival luster. (B1) Sequencing chromatograms showing the same c.148G>A heterozygous transition in patient 2. (B2) Unaffected mother of patient 2. (B3) Sister who is carrying c.35delG heterozygous mutation of patient 2.
Mutation analysis of GJB2 gene region associated with KID in two unrelated female patients. (A) Patient 1, thickening and keratinization of eyelid margins, lash loss, cornea showing a rim of abnormal epithelium with superficial neovascularization peripheral, significant stromal scarring with extensive neovascularization. (A1) Sequencing chromatograms showing the GJB2 heterozygous transition c.148G>A in first patient. (A2) Unaffected mother of patient 1. (B) Patient 2, thickening and keratinization of eyelid margins, lash loss, diffuse opacification of cornea and loss of conjunctival luster. (B1) Sequencing chromatograms showing the same c.148G>A heterozygous transition in patient 2. (B2) Unaffected mother of patient 2. (B3) Sister who is carrying c.35delG heterozygous mutation of patient 2.
Langue:
Anglais
Périodicité:
2 fois par an
Sujets de la revue:
Médecine, Sciences médicales de base, Sciences médicales de base, autres
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