Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Bohring-Opitz-Syndrom

Das Bohring-Opitz-Syndrom ist ein autosomal dominantes Malformations-Syndrom, welches durch Mutationen im ASXL1-Gen hervorgerufen wird.

Gliederung

Erbliche Fehlbildungen
Angeborene Fehlbildungen des Urogenitalsystems
Angeborene Skelettfelbildungen
Bohring-Opitz-Syndrom
ASXL1
Verzögerte spondyloepiphysäre Dysplasie

Referenzen:

1.

Hoischen A et al. (2011) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

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2.

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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4.

Addor MC et al. (1995) "C" trigonocephaly syndrome with diaphragmnatic hernia.

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5.

Bohring A et al. (1999) Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

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6.

Nakane T et al. (2000) Opitz trigonocephaly (C)-like syndrome, or Bohring-Opitz syndrome: another example.

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7.

Brunner HG et al. (2000) Bohring syndrome.

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8.

Greenhalgh KL et al. (2003) Siblings with Bohring-Opitz syndrome.

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9.

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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13.

Orphanet article

Orphanet ID 97297 [^]
14.

OMIM.ORG article

Omim 605039 [^]
15.

Wikipedia Artikel

Wikipedia DE (C-Syndrom) [^]
Update: 9. Mai 2019