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

The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype.

American journal of medical genetics. Part A - 15 Apr 2007

Kier-Swiatecka Elisa, Kock Marianne, Marker Peter, Eiberg Hans, Kjaer Klaus Wilbrandt

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 Child
Share to DNA-Binding Proteins
Share to Family Health
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Syndrome

Share to Trans-Activators

Share to Transcription Factors

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 17352394
DOI: 10.1002/ajmg.a.31654

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype.PMID 17352394Read ↗

Update of Emerinopathies’ clinical-genetic spectrum: the French network experienceSemantic proximity Read ↗

Novel ET mutations: stuck in the MPL with you.Semantic proximity Read ↗

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.Semantic proximity Read ↗

When a "disease-causing mutation" is not a pathogenic variant.Semantic proximity Read ↗

Single allele mutations at the heart of congenital disease.Semantic proximity Read ↗

Dynamic mutations: a new class of mutations causing human disease.Semantic proximity Read ↗

Familial Hyperkalemic Hypertension Genotype With a Negative Phenotype: A CUL3 Mosaicism.Semantic proximity Read ↗

OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH.Semantic proximity Read ↗

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.Semantic proximity Read ↗

A Rare Mutation in TRRAP Gene and the Expanded New Phenotype.Semantic proximity Read ↗

Novel SACS Mutation Deviates from the French Canadian ARSACS Phenotype.Semantic proximity Read ↗

Mutations in MPNs to "interfere-on".Semantic proximity Read ↗

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