Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia

BACKGROUND: Parthenogenetic mosaicism is an extremely rare condition identified only in five subjects to date. The previous studies indicate that this condition is mediated by parthenogenetic activation and is free from a specific phenotype ascribed to unmaking of a maternally inherited recessive va...

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Detalles Bibliográficos
Autores principales: Masunaga, Yohei, Kagami, Masayo, Kato, Fumiko, Usui, Takeshi, Yonemoto, Takako, Mishima, Kazuo, Fukami, Maki, Aoto, Kazushi, Saitsu, Hirotomo, Ogata, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028705/
https://www.ncbi.nlm.nih.gov/pubmed/33827678
http://dx.doi.org/10.1186/s13148-021-01062-0

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