Baraitser-Burn syndrome is an autosomal recessive ciliopathy caused by mutations of the TCTN3 gene. It is characterized by skeletal, neuronal and visceral malformations.
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Thomas S et al. (2012) TCTN3 mutations cause Mohr-Majewski syndrome.
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Nevin NC et al. (1992) Orofaciodigital syndrome type IV: report of a patient.
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Meinecke P et al. (1990) Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.
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| 5. |
None (1986) The orofaciodigital (OFD) syndromes.
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| 6. |
Burn J et al. (1984) Orofaciodigital syndrome with mesomelic limb shortening.
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| 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?
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Cooper CP et al. (1982) Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases.
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Digilio MC et al. (1995) Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.
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Toriello HV et al. (1997) Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.
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| 12. |
OMIM.ORG article Omim 258860
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