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genetics pathophysiology 21hydroxylasedeficiency 21ohd endocrinology praderwilli syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... , sleep apnea, cor ... pulmonale #PraderWilli ... pathophysiology #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
as males at birth ... vomiting • Late (shock ... ): cold & mottled ... endocrinology #peds ... #pediatrics
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