Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of < em > DTNBP1 < /em > variants
CONCLUSION: This work highlights the genetic complexity of HPS-7 and emphasizes the importance of genetic testing in the diagnosis of this rare disorder. The identification of a rare pathogenic variant expands our understanding of HPS-7 genetics and suggests a possible founder effect in the Portuguese population.PMID:38097925 | DOI:10.1080/13816810.2023.2291670 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 15, 2023 Category: Opthalmology Authors: Rita Rodrigues Rita Quental Renato Santos Silva L ídia Costa S érgio Estrela-Silva Source Type: research
Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and < em > KRAS < /em > mutation: a current review and novel case report
DISCUSSION: SFMS, a rare neurocutaneous disorder, results from postzygotic mosaic mutations in the RAS/MAPK pathway. Patients present with various systemic findings and ophthalmic manifestations occur in most cases. This is the first case description of a KRAS mutation identified in an orbital choristoma in SFMS. The disease is described under various names in the literature, and we propose that all syndromic cases with mosaic RAS mutations be reported under the eponym, SFMS.PMID:38097938 | DOI:10.1080/13816810.2023.2291664 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 15, 2023 Category: Opthalmology Authors: Lauren B Yeager Daniel S Casper Armando Del Portillo Brian P Marr Source Type: research
Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of < em > DTNBP1 < /em > variants
CONCLUSION: This work highlights the genetic complexity of HPS-7 and emphasizes the importance of genetic testing in the diagnosis of this rare disorder. The identification of a rare pathogenic variant expands our understanding of HPS-7 genetics and suggests a possible founder effect in the Portuguese population.PMID:38097925 | DOI:10.1080/13816810.2023.2291670 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 15, 2023 Category: Opthalmology Authors: Rita Rodrigues Rita Quental Renato Santos Silva L ídia Costa S érgio Estrela-Silva Source Type: research
Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and < em > KRAS < /em > mutation: a current review and novel case report
DISCUSSION: SFMS, a rare neurocutaneous disorder, results from postzygotic mosaic mutations in the RAS/MAPK pathway. Patients present with various systemic findings and ophthalmic manifestations occur in most cases. This is the first case description of a KRAS mutation identified in an orbital choristoma in SFMS. The disease is described under various names in the literature, and we propose that all syndromic cases with mosaic RAS mutations be reported under the eponym, SFMS.PMID:38097938 | DOI:10.1080/13816810.2023.2291664 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - December 15, 2023 Category: Opthalmology Authors: Lauren B Yeager Daniel S Casper Armando Del Portillo Brian P Marr Source Type: research
