Last Posted: Jul 07, 2020
- Klippel-Trenaunay and Sturge-Weber Overlap Syndrome with KRAS and GNAQ mutations.
He Ruojie et al. Annals of clinical and translational neurology 2020 Jul
- Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.
Liu Hong-Yan et al. Scientific reports 2019 Dec 9(1) 19365
- A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome.
De la Torre Alejandro J et al. Pediatric neurology 2018 8411-20
- Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde Emilie et al. Molecular genetics & genomic medicine 2019 Feb
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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