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.
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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. ![]() |
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)![]() |