Fanconi Syndrome
What's New
Last Posted: Mar 06, 2023
- Targeted resequencing of phosphorus metabolism?related genes in 86 patients with hypophosphatemic rickets/osteomalacia.
Gu Jiemei, et al. International journal of molecular medicine 2018 0 (3) 1603-1614 - Molecular based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner Katharina, et al. Molecular genetics and metabolism reports 2019 0 100514 - A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.
Najafi Maryam, et al. Frontiers in pediatrics 2019 0 89 - The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia.
Jiang Y, et al. Journal of endocrinological investigation 2020 7 - CLINGEN Actionability Report for Cystinosis-CTNS
ClinGen Actionability Working Group - NTBC and Correction of Renal Dysfunction.
Maiorana Arianna et al. Advances in experimental medicine and biology 2017 95993-100 - A pharmacogenetic candidate gene study of tenofovir-associated Fanconi syndrome.
Dahlin Amber, et al. Pharmacogenetics and genomics 2015 2 (2) 82-92 - Fanconi Anemia
From NHLBI health topic site - Fanconi syndrome
From NCATS Genetic and Rare Diseases Information Center - Primary Fanconi syndrome
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
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
- Page last updated:May 01, 2024
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