APRV pulmonary sign cxr physicalexam symptoms signs findings peds genetics syndrome pediatrics sarcoidosis pathophysiology

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

Pathogenesis and clinical findings ... Signs/Symptoms ... #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics

Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals

survival is 93-95% Pathophysiology ... e.g. incidental CXR ... finding) ... Pulmonary and ... Diagnosis #Management #Signs

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

Pathogenesis and Clinical Findings ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics

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