Homozygous and heterozygous inheritance ofPAX3 mutations causes different types of Waardenburg syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference21 articles.
1. Possible homozygous Waardenburg syndrome in a fetus with exencephaly
2. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
3. Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature
4. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations
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2. PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome;G3: Genes, Genomes, Genetics;2024-06-13
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