Last Posted: Oct 28, 2023
- Diffuse cutaneous mastocytosis in a girl with M541L polymorphism in KIT gene: Response to treatment with imatinib.
Aniza Giacaman, et al. Anales de pediatria 2023 0
- Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati Parisa, et al. American journal of medical genetics. Part A 2018 0 (11) 2259-2275
- Pediatric mastocytosis.
Hussain Sadaf H, et al. Current opinion in pediatrics 2020 0 (4) 531-538
- Interobserver variability in the classification of childhood maculopapular cutaneous mastocytosis.
Torrelo A, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2021 0 (10) 2079-2084
- KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes.
Navarro-Navarro Paula, et al. Allergy 2022 0
- Prognostic Impact of Organomegaly in Mastocytosis: An Analysis of the European Competence Network on Mastocytosis.
Lübke Johannes, et al. The journal of allergy and clinical immunology. In practice 2022 0 (2) 581-590.e5
- Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.
Nedoszytko Boguslaw, et al. International journal of molecular sciences 2021 0 (1)
- The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis.
De Matteis Giovanna, et al. Leukemia research 2015 0 (3) 273-8
- -2518A/G polymorphism of monocyte chemotactic protein 1 (MCP-1/CCL2) is associated with cutaneous mastocytosis.
?ugowska-Umer Hanna, et al. Postepy dermatologii i alergologii 2021 12 (6) 1039-1043
- Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.
Nedoszytko Bogus?aw, et al. International journal of molecular sciences 2020 7 (15)
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
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- 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:Oct 1, 2023
- Page last updated:Dec 08, 2023
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