Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

Yap, K. L. [et al]
Ellard, Sian

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Publication date

June 2018

DOI

10.1038/s41436-018-0013-9

Publisher

Nature

Journal

Genetics in Medicine

Abstract

Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI

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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

Abstract

Extracted data

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

Abstract

Extracted data

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