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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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Detalles Bibliográficos
Autores principales: Matsubara, Keiko, Kagami, Masayo, Fukami, Maki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073059/
https://www.ncbi.nlm.nih.gov/pubmed/30083028
http://dx.doi.org/10.1297/cpe.27.113