Last Posted: Dec 03, 2015
- "Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches".
Butler Merlin G et al. Current pediatric reviews 2015 Nov
- Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Barclay Sarah F, et al. Orphanet journal of rare diseases 2015 0 103
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
Rand Casey M, et al. Pediatric research 2011 10 (4) 375-8
- Hypothalamic dysfunction
From NCATS Genetic and Rare Diseases Information Center
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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