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Kabuki syndrome

Kabuki make-up syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Kabuki syndrome" returned 3 free, full-text review articles. First few results:
Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.
Last Updated: Aug 16, 2019

A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. Concurrently, macrohematuria portended the diagnosis of Wilms tumor. Postoperative chemotherapy has ...

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Last Updated: Jun 15, 2018

Kabuki syndrome (KS) is a rare condition with multiple congenital anomalies and mental retardation. Exonic deletions, disrupting the lysine (K)-specific demethylase 6A (KDM6A) gene have been demonstrated as rare cause of KS. Here, we report a de novo 227-kb deletion in chromosome ...

Epigenetic control of the immune system: a lesson from Kabuki syndrome.
Last Updated: Nov 13, 2018

Kabuki syndrome (KS) is a rare multi-systemic disorder characterized by a distinct face, postnatal growth deficiency, mild-to-moderate intellectual disability, skeletal and visceral (mainly cardiovascular, renal, and skeletal) malformations, dermatoglyphic abnormalities. Its cause ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Kabuki syndrome" 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" returned 58 free, full-text research articles. First few results:
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.
Last Updated: May 22, 2019

Kabuki syndrome (KS) is a rare congenital anomaly syndrome affecting multiple organs. Two genes have been shown to be mutated in patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D, formerly MLL2). Although the congenital ...

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.
Last Updated: Aug 16, 2019

Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in controls (Control-MVs), 584 somatic MVs in cancers (Cancer-MVs) ...

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