A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

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

[2]  W. Sessa,et al.  Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. , 2014, Cell metabolism.

[3]  E. Zackai,et al.  An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B , 2014, American journal of medical genetics. Part A.

[4]  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.

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

[6]  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.

[7]  R. Gibbs,et al.  Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. , 2012, American journal of human genetics.

[8]  L. Vissers,et al.  De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. , 2012, American journal of human genetics.

[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]  Y. Gillerot,et al.  Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive , 2006, American journal of medical genetics. Part A.

[11]  L. Maquat,et al.  A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. , 1998, Trends in biochemical sciences.