| Journal: | Genetics and molecular biology |
| Database: | PERIÓDICA |
| System number: | 000348173 |
| ISSN: | 1415-4757 |
| Authors: | Pardono, Eliete1 Mazzeu, Juliana F1 Lezirovitz, Karina1 Auricchio, Maria Teresa B.M1 Iughetti, Paula1 Nascimento, Rafaella M.P1 Mingroni-Netto, Regina C1 Otto, Paulo A1 |
| Institutions: | 1Universidade de Sao Paulo, Centro de Estudos do Genoma Humano, Sao Paulo. Brasil |
| Year: | 2006 |
| Season: | Dic |
| Volumen: | 29 |
| Number: | 4 |
| Pages: | 601-604 |
| Country: | Brasil |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Experimental |
| English abstract | 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 |
| Disciplines: | Medicina |
| Keyword: | Neurología, Genética, Síndrome de Waardenburg, Mutaciones, Gen PAX3, Penetrancia incompleta, Deficiencia auditiva neurosensorial, Telecanto |
| Keyword: | Medicine, Neurology, Genetics, Waardenburg syndrome, Mutations, PAX3 gene, Incomplete penetrance, Sensorineural hearing impairment, Telecanthus |
| Full text: | Texto completo (Ver PDF) |
