Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

Background: Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes. However, for most subtelomeric defects a characteristic clinical phenotype remains to be elucidated. Objective: To screen for submicroscopi...

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Detaylı Bibliyografya
Asıl Yazarlar: Koolen, D, Nillesen, W, Versteeg, M, Merkx, G, Knoers, N, Kets, M, Vermeer, S, van Ravenswaaij, C M A, de Kovel, C G, Brunner, H, Smeets, D, de Vries, B B A, Sistermans, E
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2004
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735655/
https://ncbi.nlm.nih.gov/pubmed/15591274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.023671
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