Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes...

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Autori principali: Hoth, C F, Milunsky, A, Lipsky, N, Sheffer, R, Clarren, S K, Baldwin, C T
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1993
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682157/
https://ncbi.nlm.nih.gov/pubmed/8447316
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