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 - December 15, 2023 Category: Opthalmology Authors: Rita Rodrigues Rita Quental Renato Santos Silva L ídia Costa S érgio Estrela-Silva Source Type: research