Branchiootische Syndrom

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None (1962) Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness.

FOURMAN P et al. (1955) Hereditary deafness in family with ear-pits (fistula auris congenita).

Fitch N et al. () The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome.

Kumar S et al. (2000) Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

Azuma N et al. (2000) Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

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None (1969) Familial hearing loss associated with branchial fistulas.

Sanggaard KM et al. (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Orphanet article