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21hydroxylasedeficiency 21ohd calcifications diagnosis endocrinology examination newborn pathophysiology physicalexam radiology wolmans xray
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
Plain radiography ... calcification of both adrenal ... and gut, which causes ... #clincial #peds ... #infant #NEJM #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
paediatrician or geneticist ... Any intra-abdominal ... usually renal in ... #Examination #Peds ... #Pediatrics #Diagnosis
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