Further delineation of the KAT6B molecular and phenotypic spectrum

Erstveröffentlichung
2015Authors
Gannon, Tamsin
Perveen, Rahat
Schlecht, Helene
Ramsden, Simon
Anderson, Beverley
Wissenschaftlicher Artikel
Published in
European Journal of Human Genetics ; 23 (2015), 9. - S. 1165-1170. - ISSN 1018-4813. - eISSN 1476-5438
Link to publication
https://dx.doi.org/10.1038/ejhg.2014.248Institutions
UKU. Institut für HumangenetikSubject headings
[Free subject headings]: HISTONE ACETYLTRANSFERASE KAT6B | CAUSE GENITOPATELLAR SYNDROME | DE-NOVO MUTATIONS | OHDO SYNDROME | MENTAL-RETARDATION | BLEPHAROPHIMOSIS[DDC subject group]: DDC 570 / Life sciences | DDC 610 / Medicine & health