Clinical features and the genetic analysis of KAT6B-related diseases caused by a de novo mutation of the KAT6B gene c.621+1G>A
Author:
Funder
Jiangxi Provincial Department of Science and Technology
Publisher
Elsevier BV
Subject
Surgery
Reference4 articles.
1. De novo mutation of KAT6B gene causing atypical Say-Barber-Biesecker-Young-Simpson syndrome or genitopatellar syndrome;Li;Fetal Pediatr Pathol,2017
2. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms;Campeau;Hum Mutat,2012
3. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome;Radvanszky;Clin Genet,2017
4. Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting?;Lonardo;Clin Genet,2019
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