| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
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| Autores: |
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.
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| Data: |
2006-01-01
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| Ano: |
2006
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| Palavras-chave: |
Waardenburg syndrome
PAX3 gene
Incomplete penetrance
Sensorineural hearing impairment
Telecanthus
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| Resumo: |
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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572006000400003
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.29 n.4 2006
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| Direitos: |
info:eu-repo/semantics/openAccess
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