Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 176, Issue 5, Pages 1222-1224Publisher
WILEY
DOI: 10.1002/ajmg.a.38674
Keywords
AKT1; GLUT4; insulin-independent hypoglycemia
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Proteus syndrome (PS) is characterized by the progressive, segmental, or patchy overgrowth of the skin, and other tissues. This is the first case report of recurrent severe insulin-independent hypoglycemia in an infant with PS. Somatic p.E17K of AKT1 mutation was confirmed. The patient also had a giant umbilical cord, which has not yet been reported in PS.
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