3 results
21hydroxylasedeficiency 21ohd diagnosis disease endocrinology incomplete kawasaki praderwilli syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... , sleep apnea, cor ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Evaluation of suspected incomplete Kawasaki Disease 1. AHA consensus recommendations 2. Infants ≤6 months old on day ≥7
Evaluation of suspected ... lack of tapering, decreased ... clinical and lab signs ... #Diagnosis #Peds ... #Pediatrics #Kawasaki
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