De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35848/fullpdf
Reference14 articles.
1. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome;Campeau;Am J Hum Genet,2012a
2. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms;Campeau;Hum Mutat,2012b
3. Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth;Clayton-Smith;Clin Dysmorphol,1994
4. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome;Clayton-Smith;Am J Hum Genet,2011
5. A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome;Day;Clin Genet,2008
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