The Calgary Guide to Understanding Disease @TheCalgaryGuide
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21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Anorexia Nervosa: Pathogenesis and Risk Factors
Biological Risk Factors
 • Gender: F > M
 • Genetics: concordance
Gender: F > M • Genetics ... Neurobiology: disruptions ... AnorexiaNervosa #pathophysiology ... diagnosis #signs #symptoms