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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: 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 ...

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Last Updated: Dec 10, 2019

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: Dec 10, 2019

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 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 ...

Talon cusp in the temporary dentition of a patient with Kabuki syndrome: Case report with a two-year follow-up.
Last Updated: Jan 08, 2020

The presence of dental abnormalities in the same individual may be related to syndromic cases and occur through associated systemic changes. Kabuki syndrome presents well-defined systemic changes, but its clinical characteristics related to the oral cavity have not been fully explained. ...

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65 Free Research Articles 285 Research Articles