3 results
pediatrics 21hydroxylasedeficiency 21ohd acute endocrinology glaucoma praderwilli syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms/Complications ... Incr Skeletal fractures ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Acute Closed Angle Glaucoma: Pathogenesis and Clinical Findings OPHTHALMIC EMERGENCY: Early detection is essential, but most patients
• Significant cause ... Signs / Symptoms / Complications ... Photophobia #Acute #ClosedAngle ... #Glaucoma #pathophysiology ... #ophthalmology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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