Last Posted: Jan 26, 2017
- Decreased telomere length in children with cartilage-hair hypoplasia.
Kostjukovits Svetlana, et al. Journal of medical genetics 2016 12
- Cartilage-hair hypoplasia
From NCATS Genetic and Rare Diseases Information Center
- Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
de Pontual L, et al. Human mutation 2007 8 (8) 790-6
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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