2 results
pathophysiology peds 21ohd endocrinology praderwilli syndrome
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... a scrotum #21HydroxylaseDeficiency ... pathophysiology #genetics ... endocrinology #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... pathophysiology #peds #pediatrics
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