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Article

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.

Virchows Archiv : an international journal of pathology - 1 Jun 2018

Musalkova Dita, Sticova Eva, Reboun Martin, Sokolova Jitka, Krijt Jakub, Honzikova Jitka, Gurka Jiri, Neroldova Magdalena, Honzik Tomas, Zeman Jiri, Jirsa Milan, Dvorakova Lenka, Hrebicek Martin

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder that causes recurrent and life-threatening episodes of hyperammonemia. The clinical picture in heterozygous females is highly diverse and derives from the genotype and the degree of inactivation of the mutated X chromosome in hepatocytes. Here, we describe molecular genetic, biochemical, and histopathological findings in the livers explanted from...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29623395
DOI: 10.1007/s00428-018-2345-x

Genes

OTC

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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