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Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region

BACKGROUND: Transient neonatal diabetes (TND) is a rare form of diabetes usually present in the first few days after birth that resolves within 1 year but that has a tendency to recur later in life. It can be associated with chromosome 6 paternal uniparental disomy (UPD), paternal duplications or lo...

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Detalhes bibliográficos
Main Authors: Diatloff‐Zito*, C, Nicole, A, Marcelin, G, Labit, H, Marquis, E, Bellanné‐Chantelot, C, Robert, J J
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597920/
https://ncbi.nlm.nih.gov/pubmed/16971482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.044404
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