Last Posted: Jul 08, 2020
- Klippel-Trenaunay and Sturge-Weber Overlap Syndrome with KRAS and GNAQ mutations.
He Ruojie, et al. Annals of clinical and translational neurology 2020 7
- A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.
Palmieri Maria et al. Vascular 2020 Jun 1708538120936421
- Klippel-Trenaunay syndrome
From NCATS Genetic and Rare Diseases Information Center
- Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program.
Hu Y, et al. Annals of human genetics 2008 9 (Pt 5) 636-43
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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