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Timothy syndrome type 2
- What Causes Rett Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Rett Syndrome/Genetics ... Rett Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes of Health
- What Are the Types and Phases of Rett Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)There are two main types of Rett syndrome: classic and atypical. The two types may differ by their symptoms or by the specific gene mutation.
- Rett Syndrome: Overview (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Rett Syndrome/Start Here ... Rett Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... Rett syndrome is a neurological and ...
- ... 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 ...
- What Are the Symptoms of Turner Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Turner syndrome causes a variety of symptoms in girls and women. For some people, symptoms are mild, but for others, Turner syndrome can cause serious ...
- Other Turner Syndrome: FAQs (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Turner Syndrome/Start Here ... Turner Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes of ...
- How Do Health Care Providers Diagnose Down Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Down Syndrome/Diagnosis and Tests ... Down Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes ...
- What Causes Cushing's Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Cushing's Syndrome/Specifics ... Cushing's Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... Cortisol-like medications ...
- Polycystic Ovary Syndrome (PCOS) (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Polycystic Ovary Syndrome/Start Here ... Polycystic Ovary Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National ...