Talk:Kabuki syndrome

MEDRS Resources on Kabuki syndrome

PMID links to the record in PubMed. Linked article titles go to the free full text in PubMed Central.

Systematic Reviews

• Xin et al. (2018) Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review. PMID: 29482518)
• Liu et al. (2015) Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. PMID: 25896430

Recent Reviews

• Adli et al. (2014) Diverse functions of PHD fingers of the MLL/KMT2 subfamily. PMID: 24291127
• Bögershausen et al. (2016) Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. PMID: 27302555
• Bokinni Y. (2012) Kabuki syndrome revisited. PMID: 22437206
• Cheon & Ko. (2015) Kabuki syndrome: clinical and molecular characteristics. PMID: 26512256
• Dentici et al. (2015) Kabuki syndrome: clinical and molecular diagnosis in the first year of life. PMID: 25281733
• Digilio & Marino. (2016) What Is New in Genetics of Congenital Heart Defects? PMID: 27990414
• Lederer et al. (2014) A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. PMID: 24664873
• Lintas & Persico. (2017) Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes. PMID: 28139835
• Rangasamy et al. (2013) Epigenetics, autism spectrum, and neurodevelopmental disorders. PMID: 24104594
• Sobreira et al. (2017) Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. PMID: 29255178
• Stagi et al. (2016) Epigenetic control of the immune system: a lesson from Kabuki syndrome. PMID: 26411453
• Van der Meulen et al. (2014) The H3K27me3 demethylase UTX in normal development and disease. PMID: 24561908
• Yang et al. (2016) De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. PMID: 2702810
• Yuan SM. (2013) Congenital heart defects in Kabuki syndrome. PMID: 23558868
• Zollino et al. (2017) Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples. PMID: 29093661

National Library of Medicine on Kabuki syndrome

• GARD (Genetic and Rare Diseases Information Center) - NIH Center for Advancing Translational Sciences
• GeneReviews - Clinically relevant and medically actionable information for inherited conditions
• Genetics Home Reference - Kabuki Syndrome page
• Genetics Home Reference - KDM6A gene
• Genetics Home Reference - KMT2D gene
• MedGen - Clinical information about medical genetics phenotypes including Mendelian disorders, complex diseases, clinical features and pharmacogenetics
  • Kabuki syndrome
  • Kabuki syndrome 1
  • Kabuki syndrome 2

Errors/Terminology

The external link on this page contradicts the shortened lifespan statement on this page, claiming there's no data to point to shortened lifespans. Can we resolve this conflict? EddEdmondson 14:42, 9 Jul 2004 (UTC)

Eponyms are things with the name of a famous/historical person attached (not a famous/historical thing). So does the "eponymous diseases" category really belong here? Kabuki is a form of theatre, not a person, as far as I know... - Nunh-huh 14:50, 9 Jul 2004 (UTC)

I think, in medicine, the usage of "eponymous" expands a bit in medicine. For example, Alice in Wonderland syndrome is named after a fictional/fantasy location but how else do you want to classify it? Alex.tan 15:08, 15 Sep 2004 (UTC)

Merger with Niikawa-Kuroki Syndrome

Which page should be used as the main and which as the redirect? perhaps Kabuki syndrome is the better known. --apers0n 11:27, 29 June 2006 (UTC)

#CiteNLM2018 Edit-a-Thon

I am working on this page as part of the #CiteNLM2018 Edit-a-Thon. The goal is to cite in accordance with WikiProject Medicine guidelines for sources. Clearlykrystal (talk) 20:28, 15 April 2018 (UTC)

New & Expanded Sections

New sections to consider adding to the page:

• history
• further reading

Expand these sections to enrich page content:

• pathophysiology
• screening
• diagnosis
• management
• prognosis
• research directions
• external links Clearlykrystal (talk) 17:58, 20 April 2018 (UTC)