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

Molecular genetics & genomic medicine - 1 Dec 2024

Yamoto Kaori, Yamada Kosuke, Shimizu Kenji, Miyamoto Sachiko, Nakashima Mitsuko, Saitsu Hirotomo

Abstract excerpt

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 sequencing (ES), and RNA sequencing (RNA-seq) using the patient's urine-derived cells on a patient with growth retardation...

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PMID: 39621529
DOI: 10.1002/mgg3.70037
PMCID: PMC11610623

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