Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

Background: Most cases of Sotos syndrome are caused by intragenic NSD1 mutations or 5q35 microdeletions. It is uncertain whether allelic or genetic heterogeneity underlies the residual cases and it has been proposed that other mechanisms, such as 11p15 defects, might be responsible for Sotos cases w...

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Detaylı Bibliyografya
Asıl Yazarlar: Douglas, J, Tatton-Brown, K, Coleman, K, Guerrero, S, Berg, J, Cole, T, FitzPatrick, D, Gillerot, Y, Hughes, H, Pilz, D, Raymond, F, Temple, I, Irrthum, A, Schouten, J, Rahman, N
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2005
Konular:
Electronic Letter
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736125/
https://ncbi.nlm.nih.gov/pubmed/16140999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031930
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