Kabuki syndrome: international consensus diagnostic criteria

2018240 citationsJournal Articlegreen Open Access

Authors

Margaret P Adam · University of Washington

Siddharth Banka · University of Manchester

Hans T. Björnsson · Johns Hopkins University

Olaf A. Bodamer · Broad Institute

Albert E. Chudley · University of Manitoba

Jaqueline Harris · Kennedy Krieger Institute

Hiroshi Kawame ·

Abstract

As targeted therapies for KS are being developed, it is important to be able to make the correct diagnosis, either with or without molecular genetic confirmation.

Topics & Keywords

Genomics and Rare Diseases Oral and gingival health research Genomic variations and chromosomal abnormalities

Publication Details

Published in: Journal of Medical Genetics

Volume 56, Issue 2, pp. 89-95

DOI: 10.1136/jmedgenet-2018-105625

Field-Weighted Citation Impact: 15.77

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Kabuki syndrome: international consensus diagnostic criteria

Authors

Abstract

Topics & Keywords

Publication Details