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Congenital Hyperinsulinism As the Presenting Feature of Kabuki Syndrome: Clinical and Molecular Characterization of 10 Affected Individuals

Kai Lee Yap,Amy E. Knight Johnson,David Fischer,Priscilla Kandikatla,Jacea Deml,Viswateja Nelakuditi,Sara Halbach,George S. Jeha,Lindsay C. Burrage,Olaf Bodamer,Valeria C. Benavides,Andrea M. Lewis,Sian Ellard,Pratik Shah,Declan Cody,Alejandro Diaz,Aishwarya Devarajan,Lisa Truong,Siri Atma W. Greeley, Diva D. De Leó-Crutchlow,Andrew C. Edmondson,Soma Das,Paul Thornton,Darrel Waggoner,Daniela del Gaudio

Genetics in Medicine（2019）

Cited 44|Views58
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Key words
Hypoglycemia,hyperinsulinism,Kabuki syndrome,KDM6A,KMT2D
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