ea0017p3 | (1) | BSPED2008
Sud A
, Murray P
, Hanson D
, Khan W
, Chandler K
, Whatmore A
, Black G
, Clayton P
3-M syndrome is an autosomal recessive disorder characterised by severe pre- and post-natal growth failure, a characteristic facial appearance (triangular shaped face, fleshy tipped nose) and radiological features (slender long bones and tall vertebrae). 3-M syndrome is known to be caused by mutations throughout the Cullin 7 gene, identified in a range of ethnic groups including Brazilian, European, Moroccan, Yakutskian and Indian.We have now identified ...