Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Oral-facial-digital syndrome type 9 is a ciliopathy that has to be characterized genetically.
Orofaciodigital syndrome
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Orofaciodigital syndrome 01
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Orofaciodigital syndrome 04
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Orofaciodigital syndrome 06
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Orofaciodigital syndrome 16
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Orofaciodigital syndrome 9
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| 1. |
Münke M et al. (1990) Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. 
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| 2. |
Gurrieri F et al. (1992) Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)
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| 3. |
Nevin NC et al. (1994) Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report.
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| 4. |
Sigaudy S et al. (1996) Oral-facial-digital syndrome with retinal abnormalities: report of a new case.
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| 5. |
Nagai K et al. (1998) Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.
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| 6. |
Erickson RP et al. (2007) Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population.
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| 7. |
OMIM.ORG article Omim 258865
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| 8. |
Orphanet article Orphanet ID 141007
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