3 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... > Neonatal and infantile ... #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 ... enzyme 21-OHase causes ... #pathophysiology ... endocrinology #peds ... #pediatrics
Hepatopulmonary Syndrome - Illness Script
HPS is a pulmonary disorder of chronic liver disease characterized by a
Hepatopulmonary Syndrome ... abnormalities PATHOPHYSIOLOGY ... arteriovenous shunting causes ... of orthodeoxia CLINICAL ... cirrhosis #diagnosis #hepatology