A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a trans...
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| Outros Autores: | , , |
| Formato: | article |
| Idioma: | eng |
| Publicado em: |
2006
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| Texto completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007 |
| País: | Brasil |
| Oai: | oai:scielo:S1415-47572006000400007 |