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Article

Menkes disease with discordant phenotype in female monozygotic twins.

American journal of medical genetics. Part A - 1 Nov 2015

Burgemeister Anna Lena, Zirn Birgit, Oeffner Frank, Kaler Stephen G, Lemm Gunther, Rossier Eva, Büttel Hans-Martin

Abstract excerpt

Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-dependent enzymes. We report clinically discordant fe...

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Identifiers

PMID: 26239182
DOI: 10.1002/ajmg.a.37276
PMCID: PMC6475897

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26239182-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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