Einseitige Innenohrschwerhörigkeit bei Mutationen im PAX3-Gen bei Waardenburg-Syndrom Typ I
Author:
Publisher
Springer Science and Business Media LLC
Subject
Otorhinolaryngology
Link
http://link.springer.com/content/pdf/10.1007/s00106-005-1315-1.pdf
Reference13 articles.
1. Apaydin F, Bereketoglu M, Turan O et al. (2004) Waardenburg-Syndrom. Eine heterogene Erkrankung mit variabler Penetranz. HNO 52: 533–537
2. Arias S (1993) Mutations of PAX3 unlikely in Waardenburg syndrome type 2. Nat Genet 5: 8
3. Barber TD, Barber MC, Cloutier TE, Friedman TB (1999) PAX3 gene structure, alternative splicing and evolution. Gene 237: 311–319
4. Boissy RE, Nordlund JJ (1997) Molecular basis of congenital hypopigmentary disorders in humans: a review. Pigment Cell Res 10: 12–24
5. Busca R, Ballotti R (2000) Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res 13: 60–69
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