Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases
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Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases

Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…

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Investigative Therapy Puts Seven Olmsted Syndrome Patients in Remission
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Investigative Therapy Puts Seven Olmsted Syndrome Patients in Remission

Olmsted syndrome is a rare disease most frequently caused by mutations in TRPV3. For some patients, it is caused by MBTPS2 mutations. It is characterized by palmoplantar keratoderma (PPK) as…

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