Case Report
Published on 17 Apr 2025
Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2
in Neonatology
Frontiers in Pediatrics
doi 10.3389/fped.2025.1508198
- 4,903 views
13 articles related to "Oculocutaneous Albinism"
Articles
Original Research
Published on 15 Aug 2022
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.936064
- 3,126 views
- 5 citations
Original Research
Published on 11 Oct 2021
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.715437
- 6,490 views
- 1 citation
Brief Research Report
Published on 28 Apr 2020
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00397
- 15,172 views
- 7 citations
Review
Published on 18 Mar 2021
Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics
in Inflammation Pharmacology
Frontiers in Pharmacology
doi 10.3389/fphar.2021.644671
- 14,117 views
- 36 citations
Original Research
Published on 18 Apr 2017
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak–Higashi Syndrome Patients
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2017.00426
- 7,659 views
- 35 citations
Original Research
Published on 06 Mar 2023
Identification of novel variations of oculocutaneous albinism type 2 with Prader–Willi syndrome/Angelman syndrome in two Chinese families
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1135698
- 3,612 views
- 2 citations
Original Research
Published on 21 Jul 2020
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.00749
- 7,482 views
- 8 citations
Original Research
Published on 19 Jul 2022
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents—A case study
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2022.914243
- 4,534 views
- 1 citation
Original Research
Published on 31 Mar 2022
Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.799562
- 5,032 views
- 16 citations
Original Research
Published on 28 Apr 2021
Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex
in Experimental Pharmacology and Drug Discovery
Frontiers in Pharmacology
doi 10.3389/fphar.2021.602206
- 4,623 views
- 12 citations
Original Research
Published on 19 Jan 2022
Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)
in Experimental Pharmacology and Drug Discovery
Frontiers in Pharmacology
doi 10.3389/fphar.2021.786937
- 6,057 views
- 14 citations
Original Research
Published on 17 Aug 2022
Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets
in Cancer Immunity and Immunotherapy
Frontiers in Immunology
doi 10.3389/fimmu.2022.964891
- 5,877 views
- 10 citations