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Yet another mutation discovered for #Lipodystrophy. https://t.co/K4S4sXcCY5
Yet another mutation discovered for #Lipodystrophy. https://t.co/K4S4sXcCY5
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. https://t.co/grn2AUWCiu https://t.co/alQzI58Bda