2 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... pulmonale #PraderWilli ... #Syndrome #genetics ... pathophysiology #peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
be labeled as males ... Signs/Symptoms/Complications ... vomiting • Late (shock ... pathophysiology #genetics ... endocrinology #peds