Article
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Journal of medical genetics - 1 Dec 2013
Zweier Christiane, Kraus Cornelia, Brueton Louise, Cole Trevor, Degenhardt Franziska, Engels Hartmut, Gillessen-Kaesbach Gabriele, Graul-Neumann Luitgard, Horn Denise, Hoyer Juliane, Just Walter, Rauch Anita, Reis André, Wollnik Bernd, Zeschnigk Michael, Lüdecke Hermann-Josef, Wieczorek Dagmar
Abstract excerpt
BACKGROUND: Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable cognitive impairment, a distinct facial gestalt, obesity, and hypogonadism. Female carriers are usually not affected or only mildly affected, and so far only two females with de novo mutations or deletions in PHF6 have been...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.