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genetics pediatrics 21ohd endocrinology praderwilli syndrome
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 ... #21OHD #pathophysiology ... endocrinology #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... pulmonale #PraderWilli ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
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