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Article

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.

American journal of medical genetics. Part A - 1 Feb 2020

Wild K Taylor, Goldstein Amy C, Muraresku Colleen, Ganetzky Rebecca D

Abstract excerpt

Pearson syndrome (PS) is a multisystem mitochondrial respiratory chain disorder typically characterized by sideroblastic anemia and exocrine pancreatic insufficiency. PS is caused by a single large-scale mitochondrial DNA (mtDNA) deletion. PS classically presents in the first year of life and may be fatal in infancy. Children who survive PS may progress to develop Kearns-Sayre syndrome later in life. The full...

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

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Source

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Identifiers

PMID: 31825167
DOI: 10.1002/ajmg.a.61433
PMCID: PMC7183758

Provenance

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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