ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0016.2-3 | Neonatal Hypoglycaemia | ESPEYB16

2.3. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

K Grand , C Gonzalez-Gandolfi , AM Ackermann , D Aljeaid , E Bedoukian , LM Bird , DD De Leon , J Diaz , RJ Hopkin , SP Kadakia , B Keena , K Klein , I Krantz , E Leon , K Lord , C McDougall , L Medne , CM Skraban , CA Stanley , J Tarpinian , E Zackai , MA Deardorff , JM Kalish

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542–551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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