Isolated Ectopia Lentis
What's New
Last Posted: Feb 20, 2023
- Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.
Zhou Yijing, et al. Molecular medicine reports 2021 0 (4) - Isolated ectopia lentis
From NCATS Genetic and Rare Diseases Information Center - Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
Faivre L, et al. American journal of medical genetics. Part A 2009 5 (5) 854-60
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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