Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

Chromosome microdeletions or duplications are detected in 10–20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de n...

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Bibliografiska uppgifter
Huvudupphovsmän: Krepischi-Santos, A.C.V., Rajan, D., Temple, I.K., Shrubb, V., Crolla, J.A., Huang, S., Beal, S., Otto, P.A., Carter, N.P., Vianna-Morgante, A.M., Rosenberg, C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: S. Karger AG 2009
Ämnen:
Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2813804/
https://ncbi.nlm.nih.gov/pubmed/19617690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000218743
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