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

[7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Apr 2011

Montoro Cremades D, Manchón Trives I, Botella López V, Alcaraz Más L, García Martínez M R, Galán Sánchez F

Abstract excerpt

Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig...

Read the complete abstract on PubMed

Topics

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

Share to Acrocephalosyndactylia
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 7

Share to GLI3 gene

Share to Infant, Newborn

Share to Phenotype

Source

Identifiers

PMID: 21296629
DOI: 10.1016/j.anpedi.2010.11.017

Genes

GLI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome].PMID 21296629Read ↗

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.Semantic proximity Read ↗

The clinical atlas of Greig cephalopolysyndactyly syndromeSemantic proximity Read ↗

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.Semantic proximity Read ↗

The Greig cephalopolysyndactyly syndromeSemantic proximity Read ↗

Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality.Semantic proximity Read ↗

Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.Semantic proximity Read ↗

[Greig cephalopolysyndactyly syndrome].Semantic proximity Read ↗

Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.Semantic proximity Read ↗

Expanded mutational spectrum of the GLI3 gene substantiates genotype–phenotype correlationsSemantic proximity Read ↗

Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report.Semantic proximity Read ↗

Phenotype of five patients with Greig syndrome and microdeletion of 7p13.Semantic proximity Read ↗

New insights into genotype-phenotype correlation for GLI3 mutations.Semantic proximity Read ↗

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