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

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

European journal of human genetics : EJHG - 1 Aug 2016

Girisha Katta Mohan, Kortüm Fanny, Shah Hitesh, Alawi Malik, Dalal Ashwin, Bhavani Gandham SriLakshmi, Kutsche Kerstin

Abstract excerpt

We report two brothers from a consanguineous couple with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones, probably representing a yet uncharacterized SEMD with laxity and dislocations. This condition has clinical overlap with autosomal dominantly...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Proteins

Share to Homozygote

Share to Osteochondrodysplasias

Share to Siblings

Share to Syndrome

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 26669664
DOI: 10.1038/ejhg.2015.261
PMCID: PMC4970677

Genes

KIF22

Variants

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

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.PMID 26669664Read ↗

Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.Semantic proximity Read ↗

From wheelchair to walking: first reported case in Saudi Arabia of transformative orthopedic surgery in a patient with spondyloepimetaphyseal dysplasia with joint laxity type 3 due to EXOC6B mutation-a case report.Semantic proximity Read ↗

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.Semantic proximity Read ↗

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.Semantic proximity Read ↗

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.Semantic proximity Read ↗

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.Semantic proximity Read ↗

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.Semantic proximity Read ↗

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.Semantic proximity Read ↗

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.Semantic proximity Read ↗

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.Semantic proximity Read ↗

Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.Semantic proximity Read ↗

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.Semantic proximity Read ↗

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