Загрузка...
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...
Сохранить в:
| Главные авторы: | , , , , , , , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
S. Karger AG
2011
|
| Предметы: | |
| Online-ссылка: | 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 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|