Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of <i>DTNBP1</i> variants-Reference-Cited by-同舟云学术

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Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants

Published:2023-12-14 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Rodrigues Rita¹^ORCID,Quental Rita²^ORCID,Santos Silva Renato¹^ORCID,Costa Lídia³,Estrela-Silva Sérgio¹

Affiliation:

1. Department of Ophthalmology, Centro Hospitalar Universitário de São João, Porto, Portugal

2. Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal

3. Immunohemotherapy Department, Centro Hospitalar Universitário de São João, Porto, Portugal

Funder

no funding

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2291670

Reference19 articles.

1. Introne WJ Huizing M Malicdan MCV. Hermansky-Pudlak syndrome. 2000 [accessed 2023 May 22]. https://www.ncbi.nlm.nih.gov/books/NBK1287/.

2. BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

3. New insights into the pathogenesis of Hermansky–Pudlak syndrome

4. Hermansky–Pudlak syndrome: Mutation update

5. Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7

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