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Uniparental disomy as a cause of pediatric endocrine disorders

Uniparental disomy (UPD) refers to a condition in which two homologous chromosomes or chromosomal regions are inherited from one parent. Recent studies have shown that UPD is not rare among the general population, arising from trisomy rescue, gamete complementation, and other mechanisms. Although UP...

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Detalhes bibliográficos
Publicado no:Clin Pediatr Endocrinol
Main Authors: Matsubara, Keiko, Kagami, Masayo, Fukami, Maki
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society for Pediatric Endocrinology 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6073059/
https://ncbi.nlm.nih.gov/pubmed/30083028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.27.113
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