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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Joost, K., Tammur, P., Teek, R., Žilina, O., Peters, M., Kreile, M., Lace, B., Žordania, R., Talvik, I., Õunap, K.
Materialtyp: Artigo
Språk:Inglês
Publicerad: S. Karger AG 2011
Ämnen:
Original Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk