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December 4, 2018Open Access

Kabuki syndrome: international consensus diagnostic criteria

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Resumen

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.

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Cite This Study

Adam et al. (Tue,) studied this question.

synapsesocial.com/papers/69db469f3d9adb00e768488d https://doi.org/https://doi.org/10.1136/jmedgenet-2018-105625

Kabuki syndrome: international consensus diagnostic criteria | Synapse

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature2017 · 26 citations
2Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and <i><scp>KMT2D</scp></i> mutations2017 · 44 citations
3Kabuki syndrome: clinical and molecular diagnosis in the first year of life2014 · 102 citations
4Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 · 23 citations
5A three generation X‐linked family with Kabuki syndrome phenotype and a frameshift mutation in <i>KDM6A</i>2014 · 47 citations