Cat Eye Syndrome
Last Posted: Feb 25, 2023
- A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot.
Cafaro Alessia, et al. Molecules (Basel, Switzerland) 2021 0 (18)
- 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
Lundin Johanna, et al. European journal of medical genetics 2010 0 (2) 61-5
- Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.
Draaken Markus, et al. European journal of medical genetics 2010 0 (2) 55-60
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Lalani SR, et al. European journal of human genetics : EJHG 2012 8
- Cat eye syndrome
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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- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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