Koolen De Vries Syndrome
What's New
Last Posted: Oct 20, 2020
- Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1 .
Bigoni Stefania et al. Genes 2020 Oct 11(10) - Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Murdock David R et al. The Journal of clinical investigation 2020 Oct - Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
Sanchez-Navarro Iker et al. Scientific reports 2018 8(1) 5285 - KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.
Myers Kenneth A, et al. PloS one 2018 0 (1) e0191546 - Koolen de Vries syndrome
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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