Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5

Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5

ABSTRACT Background Uniparental isodisomy (UPiD) refers to a condition, in which both homologous chromosomes are inherited from only one parental homolog, which can result in either imprinting disorders or autosomal recessive conditions. Methods We performed chromosomal microarray analysis, exome se...

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Bibliographic Details
Main Authors: Kaori Yamoto, Kosuke Yamada, Kenji Shimizu, Sachiko Miyamoto, Mitsuko Nakashima, Hirotomo Saitsu
Format: Article
Language:English
Published: Wiley 2024-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ERCC8
homozygous deletion
NDUFAF2
RNA sequencing
uniparental disomy
Online Access:https://doi.org/10.1002/mgg3.70037
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