3M syndrome

Definition:

The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1.

References:

[1]. Céline Huber, et al. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet. 2009 Mar;17(3):395-400. [Content Brief]

[2]. Céline Huber, et al. The 3M syndrome. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):143-51. [Content Brief]

[3]. Dan Hanson, et al. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet. 2011 Jul 15;89(1):148-53. [Content Brief]

[4]. Dan Hanson, et al. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet. 2009 Jun;84(6):801-6. [Content Brief]

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