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Article

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

Genes - 9 Dec 2020

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

Abstract excerpt

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 are associated with the imprinting disorder Birk-Barel syndrome. Here, we report a 2.5-year-old boy with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Tandem Pore Domain

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Identifiers

PMID: 33316910
DOI: 10.3390/genes11121473
PMCID: PMC7763634

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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