Last Posted: Apr 04, 2019
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
- Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.
Yu Meng, et al. Chinese medical journal 0 0 (12) 1419-1424
- Kearns-Sayre syndrome
From NCATS Genetic and Rare Diseases Information Center
- Clinical features of A3243G mitochondrial tRNA mutation.
Chae Jong Hee, et al. Brain & development 2004 10 (7) 459-62
- Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
Marotta R, et al. Internal medicine journal 0 0 (1-2) 10-9
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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