Article
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019
Yap Kai Lee, Johnson Amy E Knight, Fischer David, Kandikatla Priscilla, Deml Jacea, Nelakuditi Viswateja, Halbach Sara, Jeha George S, Burrage Lindsay C, Bodamer Olaf, Benavides Valeria C, Lewis Andrea M, Ellard Sian, Shah Pratik, Cody Declan, Diaz Alejandro, Devarajan Aishwarya, Truong Lisa, Greeley Siri Atma W, De Leó-Crutchlow Diva D, Edmondson Andrew C, Das Soma, Thornton Paul, Waggoner Darrel, Del Gaudio Daniela
Abstract excerpt
PURPOSE: 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. METHODS: We documented the clinical features and molecular diagnoses of 9 infants with persistent HI and KS via a combination of sequencing and copy-number profiling methodologies. Subsequently, we...
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