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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...

詳細記述

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書誌詳細
出版年:Clin Pediatr Endocrinol
主要な著者: Matsubara, Keiko, Kagami, Masayo, Fukami, Maki
フォーマット: Artigo
言語:Inglês
出版事項: The Japanese Society for Pediatric Endocrinology 2018
主題:
オンライン・アクセス: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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