Optic Atrophy 1 And Deafness
What's New
Last Posted: Jun 18, 2024
- Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
Zhi Gao et al. Prenat Diagn 2024 - The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians.
Maha M Hammad, et al. Frontiers in endocrinology 2023 0 1185956 - Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
Nardecchia Francesca, et al. Annals of clinical and translational neurology 2020 0 (1) 247-251 - Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Ziyu, et al. BMC endocrine disorders 2021 0 (1) 166 - A WFS1 haplotype consisting of the minor alleles of rs752854, rs10010131, and rs734312 shows a protective role against type 2 diabetes in Russian patients.
Chistiakov Dimitry A, et al. The review of diabetic studies : RDS 2011 0 (4) 285-92 - Optic atrophy 1 and deafness
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy opthalmoplegia ptosis deafness myopia
From NCATS Genetic and Rare Diseases Information Center - Optic atrophy polyneuropathy deafness
From NCATS Genetic and Rare Diseases Information Center - Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program.
Florez J C, et al. Diabetologia 2008 3 (3) 451-7
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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
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