Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Bohring-Opitz syndrome is an autosomal dominant malformation syndrome caused by mutations of the ASXL1 gene.
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Hoischen A et al. (2011) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 
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Magini P et al. (2012) Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
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| 3. |
Oberklaid F et al. (1975) The Opitz trigonocephaly syndrome. A case report.
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Addor MC et al. (1995) "C" trigonocephaly syndrome with diaphragmnatic hernia.
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Bohring A et al. (1999) Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
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Nakane T et al. (2000) Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example.
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Brunner HG et al. (2000) Bohring syndrome.
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Greenhalgh KL et al. (2003) Siblings with Bohring-Opitz syndrome.
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Osaki M et al. (2006) A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome.
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| 10. |
Bohring A et al. (2006) New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
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| 11. |
Kaname T et al. (2007) Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
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| 12. |
Pierron S et al. (2009) Evolution of a patient with Bohring-Opitz syndrome.
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Orphanet article Orphanet ID 97297
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OMIM.ORG article Omim 605039
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| 15. |
Wikipedia article Wikipedia EN (Bohring–Opitz_syndrome)
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