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.
暂无分享,去创建一个
Z. Sedlacek | K. Hodaňová | H. Hartmannová | S. Kmoch | M. Havlovicová | V. Stránecký | M. Vlčková | M. Hancarova | M. Simandlová | P. Zimmermann
[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.