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| Pardono,Eliete; Mazzeu,Juliana F.; Lezirovitz,Karina; Auricchio,Maria Teresa B.M.; Iughetti,Paula; Nascimento,Rafaella M.P.; Mingroni-Netto,Regina C.; Otto,Paulo A.. |
| 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 clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Waardenburg syndrome; PAX3 gene; Incomplete penetrance; Sensorineural hearing impairment; Telecanthus. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003 |
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