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

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

American journal of medical genetics. Part A - 1 Jan 2014

Overhoff Justin, Rabideau Marina M, Bird Lynne M, Schweitzer Daniela N, Haynes Karla, Schultz Roger A, Shaffer Lisa G, Rosenfeld Jill A, Ellison Jay W

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 Abnormalities, Multiple
Share to Blepharophimosis
Share to Brain
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 8

Share to Craniofacial Abnormalities

Share to Facies

Share to Magnetic Resonance Imaging

Source

Identifiers

PMID: 24259484
DOI: 10.1002/ajmg.a.36163

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.PMID 24259484Read ↗

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.Semantic proximity Read ↗

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.Semantic proximity Read ↗

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.Semantic proximity Read ↗

Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.Semantic proximity Read ↗

Nablus mask‐like facial syndrome is caused by a microdeletion of 8q detected by array‐based comparative genomic hybridizationSemantic proximity Read ↗

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.Semantic proximity Read ↗

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.Semantic proximity Read ↗

A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.Semantic proximity Read ↗

6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.Semantic proximity Read ↗

Clinical delineation of SETBP1 haploinsufficiency disorder.Semantic proximity Read ↗

Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay.Semantic proximity Read ↗

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.Semantic proximity Read ↗

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