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Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency
Background: Females with a total or partial deletion of the short arm of the X chromosome have variable features of Turner syndrome, but mental retardation (MR) rarely occurs. The haploinsufficiency of deleted genes that escape X-inactivation may explain the occurrence of MR and autism. Ornithine tr...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
S. Karger AG
2011
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3214962/ https://ncbi.nlm.nih.gov/pubmed/22190902 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000331323 |
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