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...

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Autores principales: Joost, K., Tammur, P., Teek, R., Žilina, O., Peters, M., Kreile, M., Lace, B., Žordania, R., Talvik, I., Õunap, K.
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2011
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Original Article
Acceso en línea: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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