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Article

Systematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier.

Orphanet journal of rare diseases - 25 Aug 2024

Braun Andreas Albert, Jung Hans Heinrich

Abstract excerpt

INTRODUCTION: We present a systematic review of phenotypes of McLeod syndrome (MLS) and a case of a 73-year-old female carrier of the genetic alteration leading to MLS with the typical progressive supranuclear palsy (PSP) phenotype. METHODS: To facilitate clinical reasoning and enable targeted diagnosis, we conducted a systematic review of the papers describing symptomatic cases of confirmed McLeod syndrome. This...

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PMID: 39183347
DOI: 10.1186/s13023-024-03309-4
PMCID: PMC11346192

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XK

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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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