Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
Association of < em > GNB3 < /em > , < em > ACE < /em > polymorphisms with POAG and NTG
CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.PMID:37997634 | DOI:10.1080/13816810.2023.2283415 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Alexander N Samoylov Polina Tumanova Sofya A Pankratova Liana Sh Ashryatova Denis Plotnikov Source Type: research
Band-shaped keratopathy in < em > HNF4A < /em > -related Fanconi syndrome: a case report and review of the literature
CONCLUSIONS: Our case highlights the occurrence of BSK in an exceptionally rare manifestation of hereditary FS linked to HNF4A gene variant. The variant exists both in proband and asymptomatic mother. Therefore, the variable penetrance which is known to exist in HNF4A is acknowledged in this context. This report suggests the first documented instance establishing a plausible connection between BSK and HNF4A-associated FS, characterized by the variable penetrance attributed to the HNF4A gene.PMID:37997707 | DOI:10.1080/13816810.2023.2285310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - November 24, 2023 Category: Opthalmology Authors: Anshuman Verma Dilip Kumar Mishra Deepak P Edward Muralidhar Ramappa Source Type: research
