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Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.

Molecular genetics and metabolism - 1 Jun 2021

Cotrina-Vinagre Francisco Javier, Rodríguez-García María Elena, Martín-Hernández Elena, Durán-Aparicio Cristina, Merino-López Abraham, Medina-Benítez Enrique, Martínez-Azorín Francisco

Abstract excerpt

We report the clinical, biochemical and genetic findings from a Spanish boy of Caucasian origin who presented with fever-dependent RALF (recurrent acute liver failure) and osteogenesis imperfecta (OI). Whole-exome sequencing (WES) uncovered two compound heterozygous variants in NBAS (c.[1265 T > C];[1549C > T]:p.[(Leu422Pro)];[(Arg517Cys)]), and a heterozygous variant in P4HB...

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Identifiers

PMID: 33707149
DOI: 10.1016/j.ymgme.2021.02.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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