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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Newly recognized autosomal recessive MCA/MR/overgrowth syndrome.

We report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome.[1]


  1. Newly recognized autosomal recessive MCA/MR/overgrowth syndrome. Richieri-Costa, A., Guion-Almeida, M.L., Cohen, M.M. Am. J. Med. Genet. (1993) [Pubmed]
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