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The Calgary Guide to Understanding Disease @TheCalgaryGuide

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Account created for The Calgary Guide to Understanding Disease - Linking pathophysiology to clinical presentation - http://calgaryguide.ucalgary.ca/

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Prader-Willi Syndrome: Pathogenesis and clinical findings
• Maternal uniparental disomy: inheriting 2 copies of maternal chromosome

Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics

21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase

Signs/Symptoms/Complications ... pathophysiology #genetics ... #endocrinology ... #peds #pediatrics

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