Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc41 | Endocrine genetics | ECE2006

Mutations in Cullin 7, a cofactor for Ubiquitination, cause the 3M intra-uterine growth retardation syndrome

Clayton PE , O’Sullivan L , Glaser A , Oliveira MH , de Alacantara MRS , de Almeida Barretto ES , Kingston H , Read A , Cormier-Daire V , Scambler PJ , Black G

3M syndrome is characterised by severe intra-uterine and post-natal growth failure. Patients have a characteristic triangular facial appearance and disproportionate short stature with tall vertebral bodies and over-tubulation of long bones. The condition bears some resemblance to the Russell Silver syndrome, but is transmitted as an autosomal recessive trait. It has been proposed that heterozygous carriers demonstrate mild phenotypic manifestations of the condition.<p clas...