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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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Опубликовано в: :Clin Pediatr Endocrinol
Главные авторы: Matsubara, Keiko, Kagami, Masayo, Fukami, Maki
Формат: Artigo
Язык:Inglês
Опубликовано: The Japanese Society for Pediatric Endocrinology 2018
Предметы:
Online-ссылка: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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