Ebstein's Anomaly
What's New
Last Posted: Dec 02, 2023
- Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly.
Zhou Zhou, et al. HGG advances 2023 0 100258 - Ebstein's anomaly
From NCATS Genetic and Rare Diseases Information Center - NKX2.5 mutations in patients with non-syndromic congenital heart disease.
Gioli-Pereira Luciana, et al. International journal of cardiology 2010 2 (3) 261-5
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
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- Page last reviewed:Feb 1, 2024
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