European Journal of Human Genetics (2007) 15, 264–271.
Katrina Tatton-Brown and Nazneen Rahman
Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed.
Dr. N. Rahman, Section of Cancer Genetics, Institute of Cancer Research, 15, Cotswold Road, Sutton, Surrey, SM2 5NG, UK.
Article available online.
(C) European Journal of Human Genetics.
Posted by: Tressie Dalaya
Message posted by: Trevor M. D'Souza
Bookmark and Share this page (what is this?)
Social bookmarking allows users to save and categorise a personal collection of bookmarks and share them with others. This is different to using your own browser bookmarks which are available using the menus within your web browser.
Use the links below to share this article on the social bookmarking site of your choice.
Read more about social bookmarking at Wikipedia - Social Bookmarking