Das Bohring-Opitz-Syndrom ist ein autosomal dominantes Malformations-Syndrom, welches durch Mutationen im ASXL1-Gen hervorgerufen wird.
Erbliche Fehlbildungen | ||||
Angeborene Fehlbildungen des Urogenitalsystems | ||||
Angeborene Skelettfelbildungen | ||||
Bohring-Opitz-Syndrom | ||||
ASXL1 | ||||
Smith-Kingsmore-Syndrom | ||||
Verzögerte spondyloepiphysäre Dysplasie | ||||
1. |
Hoischen A et al. (2011) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. |
2. |
Magini P et al. (2012) Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. |
3. |
Oberklaid F et al. (1975) The Opitz trigonocephaly syndrome. A case report. |
4. |
Addor MC et al. (1995) "C" trigonocephaly syndrome with diaphragmnatic hernia. |
5. |
Bohring A et al. (1999) Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? |
6. |
Nakane T et al. (2000) Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example. |
7. |
Brunner HG et al. (2000) Bohring syndrome. |
8. |
Greenhalgh KL et al. (2003) Siblings with Bohring-Opitz syndrome. |
9. |
Osaki M et al. (2006) A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. |
10. |
Bohring A et al. (2006) New cases of Bohring-Opitz syndrome, update, and critical review of the literature. |
11. |
Kaname T et al. (2007) Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. |
12. |
Pierron S et al. (2009) Evolution of a patient with Bohring-Opitz syndrome. |
13. |
Orphanet article Orphanet ID 97297 |
14. |
OMIM.ORG article Omim 605039 |
15. |
Wikipedia Artikel Wikipedia DE (C-Syndrom) |