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Kabuki syndrome 2

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Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Kabuki syndrome 2" returned 0 free, full-text review articles. First 0 results:
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Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Kabuki syndrome 2" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Kabuki syndrome 2" returned 0 free, full-text research articles. First 0 results:
On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.
Last Updated: Aug 16, 2019

Craniosynostosis has rarely been described in patients with Kabuki syndrome. We report here a boy with facial asymmetry due to combined premature synostosis of the right coronal and sagittal sutures as well as several symptoms reminiscent of Kabuki syndrome (KS). Our case supports ...

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Last Updated: Aug 16, 2019

Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A ...

Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy.
Last Updated: Oct 20, 2016

This report describes the case of a young Chinese boy with Kabuki syndrome (KS). KS is a congenital condition characterized by multiple anomalies, especially of the face, and is usually associated with mild to moderate mental retardation. The patient presented with the characteristic ...

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