Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Orofaciodigitales Syndrom 9

Das Oro-fazio-digitales Syndrom 9 ist eine Ziliopathie, die bisher noch unzureichend genetisch charakterisiert ist.

Gliederung

Orofaciodigitales Syndrom
Orofaciodigitales Syndrom 01
Orofaciodigitales Syndrom 04
Orofaciodigitales Syndrom 06
Orofaciodigitales Syndrom 16
Orofaciodigitales Syndrom 9

Referenzen:

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 [^]
8.

Orphanet article

Orphanet ID 141007 [^]
Update: 29. April 2019