A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

Erstveröffentlichung
2013Authors
Zweier, Christiane
Kraus, Cornelia
Brueton, Louise
Cole, Trevor
Degenhardt, Franziska
Wissenschaftlicher Artikel
Published in
Journal of Medical Genetics ; 50 (2013), 12. - S. 838-847. - ISSN 0022-2593. - eISSN 1468-6244
Link to publication
https://dx.doi.org/10.1136/jmedgenet-2013-101918Institutions
UKU. Institut für HumangenetikSubject headings
[Free subject headings]: Clinical genetics | CHROMATIN-REMODELING COMPLEX | FINGER | ARID1B[DDC subject group]: DDC 570 / Life sciences