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peds genetics pathophysiology 21hydroxylasedeficiency dehydration endocrinology infant shock symptoms syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Loss of parental copy ... Prader-Willi Syndrome Signs ... sleep apnea, cor pulmonale ... #PraderWilli ... pathophysiology #peds #pediatrics
Clinical features of shock from dehydration in an infant Decreased level of consciousness Sunken fontanelle Dry mucous
Clinical features ... Pale or Mottled Skin ... Extremities #PhysicalExam ... #Signs #Symptoms ... Dehydration #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 ... & mottled skin. ... #21HydroxylaseDeficiency #21OHD ... endocrinology #peds #pediatrics
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