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  • common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature
  • transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon
  • At least 10 mutations in the SKI gene have been found in people with Shprintzen-Goldberg syndrome
  • Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull
  • in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the gene
  • Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body
  • Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis
  • Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones
  • with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or
  • At least two mutations in the MSX2 gene cause a condition called craniosynostosis type 2 (also

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