Pediatrics pathophysiology pulmonary signs neurology cardiology symptoms differential summary peds syndrome congenital infancy endocrinology genetics

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21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase

also known as "congenital ... deficiencies present in infants ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics

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