Article

Whole exome sequencing in children with rare endocrine disorders

2017-01-01

Abstract excerpt

Background: Congenital Hyperinsulinism (CHI) is characterized by unregulated secretion of insulin in the presence of hypoglycaemia. Mutations in eleven different genes ABCC8, KCNJ11, GLUD1, GCK, HADH, UCP2, HNF4A, HNF1A, MCT1, HK1 and PGM1 have been associated with genetic forms of CHI. However, the genetic cause for many CHI patients (nearly 50%) remains elusive. Mutations in transcription factors such as HESX1,...

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Literature Corpus work: 68c70c93-08df-5ed7-b03a-8ac37b9246ed
DOI: 10.17638/03014406

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