December 4, 2018Open Access

Kabuki syndrome: international consensus diagnostic criteria

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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.

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

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

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