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A father and all three of his children in Versailles have been diagnosed with a very rare syndrome - Loey Dietz Syndrome. It's a genetic connective tissue disorder.
Thousands of times per year, a family's moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or making eye contact. Their limbs grow weak. The tiny chi...
Gerstmann-Sträussler-Scheinker disease (GSS) is characterized by an autosomal dominant inheritance due to mutations in the prion protein gene (PRNP) [1,2]. GSS(P105L) is a rare var...
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