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

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.

BMC genetics - 28 Sept 2013

Bayrakli Fatih, Guclu Bulent, Yakicier Cengiz, Balaban Hatice, Kartal Ugur, Erguner Bekir, Sagiroglu Mahmut Samil, Yuksel Sirin, Ozturk Ahmet Rasit, Kazanci Burak, Ozum Unal, Kars Hamit Zafer

Abstract excerpt

BACKGROUND: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported. RESULTS: We identified a family with the KFS phenotype...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Linkage
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Homeodomain Proteins

Share to Homozygote

Share to Lod Score

Share to Tomography, X-Ray Computed

Source

Open in PubMed Open full text

Identifiers

PMID: 24073994
DOI: 10.1186/1471-2156-14-95
PMCID: PMC3849745

Genes

MEOX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.PMID 24073994Read ↗

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.Semantic proximity Read ↗

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.Semantic proximity Read ↗

[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].Semantic proximity Read ↗

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.Semantic proximity Read ↗

The mutational burden and oligogenic inheritance in Klippel-Feil SyndromeSemantic proximity Read ↗

Genetic insights into the 'sandwich fusion' subtype of Klippel-Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing.Semantic proximity Read ↗

Genetic Insights into the 'Sandwich Fusion' Subtype of Klippel-Feil Syndrome: Novel FGFR2 Mutations Identified by 21 cases of Whole-Exome SequencingSemantic proximity Read ↗

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.Semantic proximity Read ↗

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.Semantic proximity Read ↗

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.Semantic proximity Read ↗

Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.Semantic proximity Read ↗

Klippel-Feil SyndromeSemantic proximity Read ↗

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