Branchiootic syndrome 1 is an autosomal dominant disorder caused by mutations of the EYA1 gene.
1. |
Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. |
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None (1969) Familial hearing loss associated with branchial fistulas. |
3. |
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1. |
4. |
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. |
5. |
Fitch N et al. () The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. |
6. |
FOURMAN P et al. (1955) Hereditary deafness in family with ear-pits (fistula auris congenita). |
7. |
None (1962) Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness. |
8. |
Spruijt L et al. (2006) Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. |
9. |
Haan EA et al. (1989) Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. |
10. |
Melnick M et al. (1978) Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. |
11. |
Cremers CW et al. (1981) Otological aspects of the earpit-deafness syndrome. |
12. |
Kalatzis V et al. (1996) Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome. |
15. |
OMIM.ORG article Omim 602588 |