Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

被引:0
作者
Ettore Piro
Ingrid Anne Mandy Schierz
Vincenzo Antona
Maria Pia Pappalardo
Mario Giuffrè
Gregorio Serra
Giovanni Corsello
机构
[1] University Hospital “P.Giaccone”,Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”
[2] University of Palermo,undefined
[3] Pediatric Radiology Unit,undefined
[4] A.R.N.A.S. Ospedali Civico Di Cristina Benfratelli,undefined
来源
Italian Journal of Pediatrics | / 46卷
关键词
Facial dysmorphism; Neonatal hypoglycemia; Hyperinsulinism; Neonatal hypotonia; Nervous system malformation;
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