Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
Orofaciodigitales Syndrom 01
Orofaciodigitales Syndrom 04
Orofaciodigitales Syndrom 06
C5ORF42
Orofaciodigitales Syndrom 16

Referenzen:

1.

Valente EM et. al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

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2.

Darmency-Stamboul V et. al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

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3.

Lopez E et. al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI.

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4.

Lambacher NJ et. al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

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5.

Gustavson KH et. al. (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

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6.

Haumont D et. al. (1983) The Mohr syndrome: are there two variants?

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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.

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8.

Hingorani SR et. al. (1991) Twin fetuses with abnormalities that overlap with three midline malformation complexes.

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9.

Münke M et. al. (1990) Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation.

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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.

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11.

Gencík A et. al. (1983) Mohr syndrome in two siblings.

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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?

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13.

Egger J et. al. (1982) Joubert-Boltshauser syndrome with polydactyly in siblings.

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14.

Váradi V et. al. (1980) Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

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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?

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16.

Stephan MJ et. al. (1994) Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).

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17.

Cleper R et. al. (1993) Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins.

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18.

None (1993) Oral-facial-digital syndromes, 1992.

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19.

Doss BJ et. al. (1998) Neuropathologic findings in a case of OFDS type VI (Váradi syndrome).

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20.

Panigrahi I et. al. (2013) Overlapping phenotypes in OFD type II and OFD type VI: report of two cases.

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Update: 26. September 2018

 

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