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
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Orofaciodigitales Syndrom 01
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Orofaciodigitales Syndrom 04
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TCTN3
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Orofaciodigitales Syndrom 06
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Orofaciodigitales Syndrom 16
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Orofaciodigitales Syndrom 9
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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. [^] |
