Nail-patella Syndrome
What's New
Last Posted: May 03, 2024
- Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.
Wu-Lin Charng, et al. Journal of medical genetics 2024 0 - Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome.
Dunston J A, et al. Annals of human genetics 2005 0 (Pt 1) 1-8 - An Exome Sequencing Study of 10 Families with IgA Nephropathy.
Stapleton Caragh P, et al. Nephron 2019 12 1-12 - Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
Kaadan M Ihsan et al. Circulation. Genomic and precision medicine 2018 11(4) e001933 - Nail-patella syndrome
From NCATS Genetic and Rare Diseases Information Center - Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes.
Park Soo, et al. Investigative ophthalmology & visual science 2009 4 (4) 1522-30
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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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