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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Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Group 2005
Ämnen:
Electronic Letter
Länkar: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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