IntraAortic shock symptoms signs clinical syndrome neurology pediatrics dystrophy genetics

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2 results

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

Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics

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

Pathogenesis and Clinical ... Signs/Symptoms/Complications ... vomiting • Late (shock ... pathophysiology #genetics ... endocrinology #peds #pediatrics

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