Article
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Nature genetics - 1 Dec 2002
Lower Karen M, Turner Gillian, Kerr Bronwyn A, Mathews Katherine D, Shaw Marie A, Gedeon Agi K, Schelley Susan, Hoyme H Eugene, White Susan M, Delatycki Martin B, Lampe Anne K, Clayton-Smith Jill, Stewart Helen, van Ravenswaay Conny M A, de Vries Bert B A, Cox Barbara, Grompe Markus, Ross Shelley, Thomas Paul, Mulley John C, Gécz Jozef
Abstract excerpt
Börjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. Previously, the gene associated with BFLS was localized to 17 Mb in Xq26-q27 (refs 2-4). We have reduced this interval to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.