Senior Loken Syndrome
What's New
Last Posted: Jan 09, 2024
- Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Xianglian Tang, et al. Heliyon 2024 0 (1) e23257 - Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families.
Hussain Sofia, et al. Iranian journal of kidney diseases 2018 0 (4) 240-242 - Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl Dongheon, et al. Molecular vision 2020 0 26-35 - Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Stone Edwin M, et al. Archives of ophthalmology (Chicago, Ill. : 1960) 2011 1 (1) 81-7 - Senior Loken Syndrome
From NCATS Genetic and Rare Diseases Information Center - Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto Edgar A, et al. Journal of medical genetics 2011 2 (2) 105-16 - Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Hoefele Julia, et al. Human mutation 2005 4 (4) 411
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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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