Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clin...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
2006-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003 |