Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.
Molecular Genetics Center Genetaq, Málaga, Spain.
Pilar
P
Carrasco Salas
Molecular Genetics Center Genetaq, Málaga, Spain.
Carmen
C
Palma Milla
Molecular Genetics Center Genetaq, Málaga, Spain.
José Miguel
JM
Lezana Rosales
Fetal-Maternal Hospital, Carlos Haya Regional University Hospital, Málaga, Spain.
Carmen
C
Benito
Fetal-Maternal Hospital, Carlos Haya Regional University Hospital, Málaga, Spain.
Sara
S
Franco Freire
Molecular Genetics Center Genetaq, Málaga, Spain.
Juan
J
López Siles
D002675:Child, Preschool; D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000235:genetics*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011379:Prognosis
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human