ea0023oc1.5 | Oral Communications 1 | BSPED2009
Hanson D
, Murray P G
, Sud A
, Temtamy S A
, Aglan M
, Superti-Furga A
, Holder S E
, Urquhart J
, Hilton E
, Manson F D C
, Scambler P
, Black G C M
, Clayton P E
3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...