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The C20orf133 gene is disrupted in a patient with Kabuki syndrome
BACKGROUND: Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental retardation syndrome. The aetiology of KS remains unknown. METHODS: Four carefully selected patients with KS were screened for chromosomal imbalances using array comparative genomic hybridisation at 1 Mb resolutio...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Group
2007
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2597955/ https://ncbi.nlm.nih.gov/pubmed/17586838 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049510 |
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