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Article

Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.

Gene - 10 Feb 2015

Gallant Natalie M, Gui Dorina, Lassman Charles R, Yong William H, Teitell Michael, Mandelker Diana, Lorey Fred, Martinez-Agosto Julian A, Quintero-Rivera Fabiola

Abstract excerpt

Ornithine transcarbamylase deficiency (OTCD, OMIM 311250), the most common urea cycle disorder, results in impaired synthesis of citrulline from carbamoyl phosphate and ornithine. Individuals have been identified with OTCD due to a contiguous gene deletion at Xp11.4-p21.1 and unique clinical features, described as the "extended OTCD phenotype". We present a male with neonatal-lethal OTCD due to a 1.87Mb...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ornithine Carbamoyltransferase Deficiency Disease

Source

Identifiers

PMID: 25434494
DOI: 10.1016/j.gene.2014.11.057

Genes

SYTL5

Provenance

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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