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A Genome-Wide Screen for Copy Number Alterations in Aicardi Syndrome
Aicardi syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore it is thought to be caused by heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression. Because all reported cases...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2009
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3640635/ https://ncbi.nlm.nih.gov/pubmed/19760649 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32976 |
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