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Despite the function of SNORD116 remaining elusive, these patients exhibit the main clinical features of PWS ( Thanks to advancements in molecular genetic testing, the diagnosis of PWS can now be confirmed very early in the neonatal period

The cellular lysate samples were prepared by centrifugation and sonication

Vitamin C deficiency can also affect bone health

These are unused, unburned calories being held in reserve because the intake of calories consumed exceeded calories burned

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study