Publications:

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

Yap, Kai Lee KL; Johnson, Amy E Knight AEK; Fischer, David D; Kandikatla, Priscilla P; Deml, Jacea J; Nelakuditi, Viswateja V; Halbach, Sara S; Jeha, George S GS; Burrage, Lindsay C LC; Bodamer, Olaf O; Benavides, Valeria C VC; Lewis, Andrea M AM; Ellard, Sian S; Shah, Pratik P; Cody, Declan D; Diaz, Alejandro A; Devarajan, Aishwarya A; Truong, Lisa L; Greeley, Siri Atma W SAW; De Leó-Crutchlow, Diva D DD; Edmondson, Andrew C AC; Das, Soma S; Thornton, Paul P; Waggoner, Darrel D; Del Gaudio, Daniela D

Publication Date: 2019-01

Variant appearance in text: KMT2D: 6613delinsAA; Ala2205Asnfs*38

PubMed Link: 29907798

Variant Present in the following documents:

• Main text

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