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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:
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 61 free, full-text research articles. First few results:
Talon cusp in the temporary dentition of a patient with Kabuki syndrome: Case report with a two-year follow-up.
Last Updated: Nov 26, 2019

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. ...

Orofacial features and medical profile of eight individuals with Kabuki syndrome.
Last Updated: Nov 26, 2019

To evaluate oral, craniofacial and systemic characteristics of eight patients with Kabuki syndrome (KS), aged between 3 and 16 years old.

Bilateral Congenital Corneal Opacities as an Early-Onset Ocular Feature of Kabuki Syndrome.
Last Updated: Aug 26, 2019

Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and unique facial characteristics. Here, we present the first case, to the best of our knowledge, of bilateral congenital corneal opacities as an early-onset ocular manifestation of KS ...

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61 Free Research Articles 274 Research Articles