Caroli Disease
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 - Cholangiolocellular Carcinoma With "Ductal Plate Malformation" Pattern May Be Characterized by ARID1A Genetic Alterations.
Sasaki Motoko, et al. The American journal of surgical pathology 2018 0 (3) 352-360 - A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.
Djursby Malene, et al. Hereditary cancer in clinical practice 2020 0 8 - Caroli disease
From NCATS Genetic and Rare Diseases Information Center
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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