Hermansky Pudlak Syndrome 2
What's New
Last Posted: Jul 07, 2023
- High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis.
Delia Irene Fernández, et al. Blood advances 2023 0 - Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
Chan Kyle S, et al. Genes 2023 0 (1) - Predictable and precise template-free CRISPR editing of pathogenic variants.
Shen Max W, et al. Nature 2018 0 (7733) 646-651 - Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.
Wei Aihua, et al. Pigment cell & melanoma research 2018 0 (3) 373-380 - Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power Bradley, et al. Orphanet journal of rare diseases 2019 0 (1) 52 - Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs.
Laukner Anna, et al. Genes 2021 0 (7) - A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.
Zhong Zilin, et al. Pigment cell & melanoma research 2021 0 (6) 1112-1119 - Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
Yokoyama Tadafumi, et al. European respiratory review : an official journal of the European Respiratory Society 2021 0 (159) - Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Marek-Yagel Dina, et al. Frontiers in genetics 2022 0 936064 - Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.
Hovnik Tinka, et al. Acta chimica Slovenica 2021 0 (3) 683-692
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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