Orofaciodigitales Syndrom 06
Das Varadi-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im C5ORF42-Gen hervorgerufen wird. Die Erkrankung ist durch Abnormalitäten des Kleinhirns und der Metacarpalen charakterisiert.
Gliederung
Orofaciodigitales Syndrom
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Orofaciodigitales Syndrom 01
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Orofaciodigitales Syndrom 04
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Orofaciodigitales Syndrom 06
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C5ORF42
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Orofaciodigitales Syndrom 16
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Referenzen:
| 1. |
Valente EM et. al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. [^] |
| 2. |
Darmency-Stamboul V et. al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. [^] |
| 3. |
Lopez E et. al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI. [^] |
| 4. |
Lambacher NJ et. al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. [^] |
| 5. |
Gustavson KH et. al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). [^] |
| 6. |
Haumont D et. al. (1983) The Mohr syndrome: are there two variants? [^] |
| 7. |
Muenke M et. al. (1991) On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. [^] |
| 8. |
Hingorani SR et. al. (1991) Twin fetuses with abnormalities that overlap with three midline malformation complexes. [^] |
| 9. |
Münke M et. al. (1990) Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. [^] |
| 10. |
Silengo MC et. al. (1987) Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. [^] |
| 11. |
Gencík A et. al. (1983) Mohr syndrome in two siblings. [^] |
| 12. |
Mattei JF et. al. (1983) Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? [^] |
| 13. |
Egger J et. al. (1982) Joubert-Boltshauser syndrome with polydactyly in siblings. [^] |
| 14. |
Váradi V et. al. (1980) Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. [^] |
| 15. |
Shashi V et. al. (1995) Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS? [^] |
| 16. |
Stephan MJ et. al. (1994) Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). [^] |
| 17. |
Cleper R et. al. (1993) Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins. [^] |
| 18. |
None (1993) Oral-facial-digital syndromes, 1992. [^] |
| 19. |
Doss BJ et. al. (1998) Neuropathologic findings in a case of OFDS type VI (Váradi syndrome). [^] |
| 20. |
Panigrahi I et. al. (2013) Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. [^] |
