Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family

1 Jul 2004

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genital Health and Disease
Share to Skin and Cellular Biology Research
Share to Trace Elements in Health

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15238919
DOI: 10.1016/j.jpeds.2004.04.033

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single familyPMID 15238919Read ↗

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Semantic proximity Read ↗

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.Semantic proximity Read ↗

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.Semantic proximity Read ↗

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.Semantic proximity Read ↗

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

Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.Semantic proximity Read ↗

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.Semantic proximity Read ↗

Mutation spectrum of ATP7A, the gene defective in Menkes disease.Semantic proximity Read ↗

Metabolic and Molecular Bases of Menkes Disease and Occipital Horn SyndromeSemantic proximity Read ↗

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.Semantic proximity Read ↗

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.Semantic proximity Read ↗

Menkes disease in affected females: the clinical disease spectrum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.