Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Branchio-okulo-faziales Syndrom

Das Branchio-okulo-faziales Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im TFAP2A-Gen hervorgerufen wird. Typisch für die Erkrankungen sind Gesichtsfehlbildungen und Stabismus.

Gliederung

Angeborene Skelettfelbildungen
Branchio-okulo-faziales Syndrom
TFAP2A
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Parodontales Ehlers-Danlos-Syndrom
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Syndrom der multiplen Synostosen 3
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

Referenzen:

1.

Fielding DW et. al. (1992) Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

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2.

Lin AE et. al. (1995) Further delineation of the branchio-oculo-facial syndrome.

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3.

Lin AE et. al. (2000) Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.

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4.

Milunsky JM et. al. (2008) TFAP2A mutations result in branchio-oculo-facial syndrome.

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5.

Tekin M et. al. (2009) A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.

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6.

Gestri G et. al. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

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7.

Reiber J et. al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

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8.

Schmerler S et. al. (1992) Long-term evaluation of a child with the branchio-oculo-facial syndrome.

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9.

Mazzone D et. al. (1992) Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis.

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10.

Lin AE et. al. (1992) Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities.

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11.

Legius E et. al. (1990) Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.

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12.

Fujimoto A et. al. (1987) New autosomal dominant branchio-oculo-facial syndrome.

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13.

Hall BD et. al. (1983) Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.

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14.

Lee WK et. al. (1982) Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.

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15.

McCool M et. al. (1994) Branchio-oculo-facial syndrome: broadening the spectrum.

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16.

Richardson E et. al. (1996) Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?

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17.

Bennaceur S et. al. (1998) Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus.

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18.

Davies AF et. al. (1999) Delineation of two distinct 6p deletion syndromes.

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19.

None (2001) Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome.

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20.

Demirci H et. al. (2005) New ophthalmic manifestations of branchio-oculo-facial syndrome.

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21.

Stoetzel C et. al. (2009) Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

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22.

Reiber J et. al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.

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