4 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Upper endoscopy revealed a pigmented mass in the duodenal bulb (Panel A) and two additional masses
duodenum (Panel B) #Clinical ... #GI #Derm #Honc ... #Melanoma #Duodenum ... #EGD #Metastatic ... #NEJM
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Gastric Gyri - Pediatric Ménétrier’s Disease - Computed tomography with contrast material (Panel A shows the
Gastric Gyri - Pediatric ... #Clinical #Peds ... Radiology #CT #EGD ... RugalHypertrophy #NEJM