46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to mitotic instability. The 8q24 region contains the imprinted KCNK9 gene, which is expressed from the maternal allele. Heterozygous KCNK9 mutations a...

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Detalles Bibliográficos
Autores principales: Kashevarova, Anna A., Nikitina, Tatyana V., Mikhailik, Larisa I., Belyaeva, Elena O., Vasilyev, Stanislav A., Lopatkina, Mariya E., Fedotov, Dmitry A., Fonova, Elizaveta A., Zarubin, Aleksei A., Sivtsev, Aleksei A., Skryabin, Nikolay A., Nazarenko, Lyudmila P., Lebedev, Igor N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763634/
https://www.ncbi.nlm.nih.gov/pubmed/33316910
http://dx.doi.org/10.3390/genes11121473

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