No evidence for uniparental disomy as a common cause of Sotos syndrome.

A number of rare diseases (including Sotos syndrome) of unknown aetiology, which occur mainly sporadically and with features of growth disorder and developmental delay, may be caused by imprinted genes and therefore be associated with UPD. Using 112 dinucleotide repeat DNA polymorphisms, we have exa...

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Bibliografiske detaljer
Main Authors: Smith, M, Fullwood, P, Qi, Y, Palmer, S, Upadhyaya, M, Cole, T
Format: Artigo
Sprog:Inglês
Udgivet: 1997
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050839/
https://ncbi.nlm.nih.gov/pubmed/9032642
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