1.
Am J Med Genet A
; 176(5): 1222-1224, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29681107
RESUMO
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.