ea0024p16 | (1) | BSPED2010
Murray P
, Hanson D
, Whatmore A
, Black G C M
, Clayton P E
Introduction: 3-M syndrome is an autosomal recessive disorder characterised by pre- and postnatal growth restriction, characteristic facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding Cullin 7 (a component of the ubiquitination system) and Obscurin like-1 (a cytoskeletal protein). The mechanisms through which mutations in these genes impair growth are uncl...