ea0021p232 | Growth and development | SFEBES2009
Murray Philip
, Hanson Daniel
, Sud Amit
, Omokanye Ajibola
, Khan Waqas
, Khan Naz
, Chandler Kate
, Aglan Mona
, Black Graeme
, Clayton Peter
Background: 3-M syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth restriction, normal intelligence and dysmorphic facial features. Mutations in the genes encoding Cullin 7 (CUL7) and Obscurin like-1 (OBSL1) have been shown to cause 3-M syndrome.Aims: To characterize CUL7 production and localization in a primary fibroblast cell line from a patient with 3-M syndrome due to a CUL7 mutation and to assess cell prol...