Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

Uniparental disomy (UPD) is a rare genetic event caused by errors during gametogenesis and fertilization leading to two copies of a chromosome or chromosomal region inherited from one parent. MixUPD is one type of UPD that contains isodisomic and heterodisomic parts because of meiotic recombination....

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Detalles Bibliográficos
Autores principales: Zhang, Lei, Hu, Yanqiu, Lu, Jingjing, Zhao, Peiwei, Zhang, Xiankai, Tan, Li, Li, Jun, Xiao, Cuiping, Zeng, Linkong, He, Xuelian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393266/
https://www.ncbi.nlm.nih.gov/pubmed/36003334
http://dx.doi.org/10.3389/fgene.2022.931833

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393266/
https://www.ncbi.nlm.nih.gov/pubmed/36003334
http://dx.doi.org/10.3389/fgene.2022.931833

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