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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 4 free, full-text review articles. First few results:
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Last Updated: Jul 24, 2020

This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.

Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
Last Updated: Jul 21, 2020

Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A). The characteristics in patients with KS have not yet been well recognized.

Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.
Last Updated: Dec 10, 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 ...

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4 Free Review Articles 32 Review Articles

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:
No publications were found for this category.
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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 65 free, full-text research articles. First few results:
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Last Updated: Feb 27, 2020

Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facies, postnatal growth deficiency, cardiac defects and skeletal anomalies. Studies have determined that pathogenic variants of the lysine-specific methyltransferase 2D (KMT2D) and lysine-specific demethylase ...

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.
Last Updated: Apr 24, 2020

Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in Kabuki syndrome ranges from 18% to 62%. We ...

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65 Free Research Articles 289 Research Articles