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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pathophysiology genetics 21hydroxylasedeficiency endocrinology praderwilli
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Keratoconus: Pathogenesis ... Ehlers-Danlos syndrome ... Turner, Marfan syndromes ... Signs / Symptoms ... pathophysiology #ophthalmology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... 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 ... #21HydroxylaseDeficiency #21OHD ... endocrinology #peds ... #pediatrics
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