3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy
{{output}}
3-M syndrome is a rare autosomal recessive disorder caused by mutations in the CUL7, OBSL1 and CCDC8 genes. It is characterised by growth failure, dysmorphic features and skeletal abnormalities. Data in the literature show variable efficacy of GH in the treatm... ...
