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Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes
Mutations in the X-linked gene doublecortin lead to “double cortex” syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males. Because most patients with DC and XLIS are sporadic, representing de novo doublecortin mutations, we considered that some of these patients could be somatic or...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
2000
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1287517/ https://ncbi.nlm.nih.gov/pubmed/10915612 |
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