Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki ‐like phenotype
Author:
Affiliation:
1. Department of Pediatric Genetics Istanbul University‐Cerrahpasa, Cerrahpasa Faculty of Medicine Istanbul Turkey
2. Department of Medical Genetics Bezmialem University, Medical School Istanbul Turkey
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62944
Reference33 articles.
1. Kabuki syndrome: international consensus diagnostic criteria
2. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;Adam M. P.;Available from,2011
3. Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
4. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
5. MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
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