Das Oro-fazio-digitales Syndrom 9 ist eine Ziliopathie, die bisher noch unzureichend genetisch charakterisiert ist.
Orofaciodigitales Syndrom | |||
Orofaciodigitales Syndrom 01 | |||
Orofaciodigitales Syndrom 04 | |||
Orofaciodigitales Syndrom 06 | |||
Orofaciodigitales Syndrom 16 | |||
Orofaciodigitales Syndrom 9 | |||
1. |
Münke M et al. (1990) Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. |
2. |
Gurrieri F et al. (1992) Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII) |
3. |
Nevin NC et al. (1994) Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report. |
4. |
Sigaudy S et al. (1996) Oral-facial-digital syndrome with retinal abnormalities: report of a new case. |
5. |
Nagai K et al. (1998) Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation. |
6. |
Erickson RP et al. (2007) Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. |
7. |
OMIM.ORG article Omim 258865 |
8. |
Orphanet article Orphanet ID 141007 |