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Article

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.

American journal of human genetics - 1 Apr 2000

Møller L B, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen L R, Horn N

Abstract excerpt

More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of Menkes disease (MD), and a few lead to the milder occipital horn syndrome (OHS). To get a better understanding of molecular changes leading to classic MD and OHS, we took advantage of the unique finding of three patients with similar mutations but different phenotypes. Although all three...

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Identifiers

PMID: 10739752
DOI: 10.1086/302857
PMCID: PMC1288188

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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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