Endocrine Abstracts

The Miller-McKusick-Malvaux (3M) syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of skeletal anomalies, facial dysmorphism and normal intelligence. Mutations in the CUL7 gene (6p21.1) are most often responsible for 3M syndrome (67% of cases). Other causal mutations include those in the OBSL1 gene (2q35), in 28% of cases, or the CCDC8 gene (19q13.33), in ...