Kabuki syndrome: international consensus diagnostic criteria

P Adam, Margaret; Banka, Siddharth; T. Björnsson, Hans; A. Bodamer, Olaf; E. Chudley, Albert; Harris, Jaqueline; Kawame, Hiroshi; C. Lanpher, Brendan; Lindsley, Andrew; Merla, Giuseppe; Miyake, Noriko; Okamoto, Nobuhiko; T Stumpel, Constanze; Niikawa, Norio

doi:10.1136/jmedgenet-2018-105625

Public

Kabuki syndrome: international consensus diagnostic criteria

Published in Journal of Medical Genetics • Dec 4, 2018

Authors:

Margaret P Adam

Siddharth Banka

Hans T. Björnsson

Abstract

Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A . Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particular...

Subject

Kabuki syndrome

Palpebral fissure

Medicine

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