Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
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| Title: | Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants. |
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| Authors: | Rodrigues, Rita1 (AUTHOR) rita.s.rodrigues@chsj.min-saude.pt, Quental, Rita2 (AUTHOR), Santos Silva, Renato1 (AUTHOR), Costa, Lídia3 (AUTHOR), Estrela-Silva, Sérgio1 (AUTHOR) |
| Source: | Ophthalmic Genetics. Jun2024, Vol. 45 Issue 3, p262-266. 5p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 13816810 |
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| DOI: | 10.1080/13816810.2023.2291670 |
