Kabuki syndrome: international consensus diagnostic criteria.

MP, Adam; S, Banka; HT, Bjornsson; O, Bodamer; AE, Chudley; J, Harris; H, Kawame; BC, Lanpher; AW, Lindsley; G, Merla; N, Miyake; N, Okamoto; CT, Stumpel; N, Niikawa

doi:10.1136/jmedgenet-2018-105625

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Kabuki syndrome: international consensus diagnostic criteria.

Shared by NobleBlocks on Dec 4, 2018 • 12:00 AM UTC

Authors:

Adam MP

Banka S

Bjornsson HT

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, particularl...

Subject

Kabuki Syndrome

Kdm6a

Kabuki Make-up Syndrome

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