De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment

[1]  Á. Carracedo,et al.  Novel truncating variants expand the phenotypic spectrum of KAT6B‐related disorders , 2019, American journal of medical genetics. Part A.

[2]  Y. Lee,et al.  Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family , 2017, Annals of rehabilitation medicine.

[3]  J. Clayton-Smith,et al.  A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing , 2015, American journal of medical genetics. Part A.

[4]  W. Reardon,et al.  Further delineation of the KAT6B molecular and phenotypic spectrum , 2014, European Journal of Human Genetics.

[5]  A. Fernández-Jaén,et al.  Genética aplicada a la práctica clínica en trastornos del neurodesarrollo , 2014 .

[6]  B. Dallapiccola,et al.  De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome , 2013, American journal of medical genetics. Part A.

[7]  Philippe M. Campeau,et al.  KAT6B-Related Disorders , 2013 .

[8]  B. Dawson,et al.  The KAT6B‐related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms , 2012, Human mutation.

[9]  J. Clayton-Smith,et al.  Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. , 2011, American journal of human genetics.

[10]  A. Voss,et al.  The Transcriptional Coactivator Querkopf Controls Adult Neurogenesis , 2006, The Journal of Neuroscience.