Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Orofaciodigitales Syndrom 04

Das Baraitser-Burn-Syndrom ist eine autosomal rezessive Ziliopathie die durch Mutationen im TCTN3-Gen hervorgerufen wird. Neben den typischen Skelettfehlbildungen finden sich auch neuronale und viszerale Entwicklungsstörungen.

Gliederung

Orofaciodigitales Syndrom
Orofaciodigitales Syndrom 01
Orofaciodigitales Syndrom 04
TCTN3
Orofaciodigitales Syndrom 06
Orofaciodigitales Syndrom 16
Orofaciodigitales Syndrom 9

Referenzen:

1.

Thomas S et al. (2012) TCTN3 mutations cause Mohr-Majewski syndrome.

[^]
2.

Nevin NC et al. (1992) Orofaciodigital syndrome type IV: report of a patient.

[^]
3.

Meinecke P et al. (1990) Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.

[^]
4.

Nevin NC et al. (1989) Orofaciodigital syndrome type IV: report of a patient.

[^]
5.

None (1986) The orofaciodigital (OFD) syndromes.

[^]
6.

Burn J et al. (1984) Orofaciodigital syndrome with mesomelic limb shortening.

[^]
7.

Baraitser M et al. (1983) A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

[^]
8.

Cooper CP et al. (1982) Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.

[^]
9.

Adès LC et al. (1994) Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

[^]
10.

Digilio MC et al. (1995) Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

[^]
11.

Toriello HV et al. (1997) Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.

[^]
12.

OMIM.ORG article

Omim 258860 [^]
13.

Wikipedia Artikel

Wikipedia DE (Oro-fazio-digitales_Syndrom_Typ_4) [^]
Update: 10. Mai 2019