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

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

Pediatric radiology - 1 Apr 2015

Tüysüz Beyhan, Yılmaz Saliha, Erener-Ercan Tuğba, Bilguvar Kaya, Günel Murat

Abstract excerpt

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare disorder due to a KIF22 gene mutation and characterized by postnatal short stature, midface hypoplasia and generalized ligamentous laxity. Radiologic hallmark includes severe involvement of the epiphyses and the slender appearance of the metacarpals and phalanges. The aim of the study was to evaluate radiologic findings of...

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 DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Joint Instability

Share to Kinesins

Share to Knee Joint

Share to Osteochondrodysplasias

Share to Radiography

Source

Identifiers

PMID: 25256152
DOI: 10.1007/s00247-014-3159-x

Genes

KIF22

Variants

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

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.PMID 25256152Read ↗

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

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.Semantic proximity Read ↗

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.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 ↗

Advances in Skeletal Dysplasia Genetics.Semantic proximity Read ↗

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.Semantic proximity Read ↗

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.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 ↗

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.Semantic proximity Read ↗

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.Semantic proximity Read ↗

What is new in genetics and osteogenesis imperfecta classification?Semantic proximity Read ↗

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