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Timothy syndrome type 2
- ... birth.Variants in the CACNA1C gene that cause Timothy syndrome change the structure of CaV1.2 channels. These gene changes lead to altered channels ... SG, Sanguinetti MC, Keating MT. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including ... Citation on PubMed
- ... part of the gene than those that cause Timothy syndrome. While these CACNA1C gene variants alter CaV1.2 channels and calcium channel flow, it is unclear ...
- ... Marec H, Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia ... V. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc ...
- ... Marec H, Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia ... V. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc ...
- Congenital Heart Defects (National Library of Medicine)What are congenital heart defects? Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems ...
- Intraocular Lens Dislocation (American Society of Retina Specialists)Cataract/Related Issues ... Cataract ... American Society of Retina Specialists
- Medication (for Vestibular Disorders) (Vestibular Disorders Association)Dizziness and Vertigo/Treatments and Therapies ... Dizziness and Vertigo ... Vestibular Disorders Association ... Medications for vestibular disorders are used to treat ...
- Hay Fever/Prevention and Risk Factors ... Hay Fever ... National Institute of Environmental Health Sciences ... From the National Institutes of Health ... To a tree or a ...
- Stem Cells/Statistics and Research ... Stem Cells ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... NINDS supports ...
- What Is a Pediatric Rheumatologist? (American Academy of Pediatrics)Juvenile Arthritis/Related Issues ... Juvenile Arthritis ... Autoimmune Diseases/Children ... Autoimmune Diseases ... American Academy of Pediatrics