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

<i>CANT1</i> mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

30 Oct 2010

Abstract excerpt

BACKGROUND: Desbuquois dysplasia (DD) is a recessively inherited condition characterised by short stature, generalised skeletal dysplasia and advanced bone maturation. DD is both clinically and radiographically heterogeneous, and two subtypes have been distinguished based on the presence (type 1) or absence (type 2) of an accessory metacarpal bone. In addition, an apparently distinct variant without additional...

Read the complete abstract on PubMed

Topics

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

Share to Cancer-related Molecular Pathways
Share to Connective tissue disorders research
Share to Developmental Biology and Gene Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21037275
DOI: 10.1136/jmg.2010.080226

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

<i>CANT1</i> mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantPMID 21037275Read ↗

A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.Semantic proximity Read ↗

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.Semantic proximity Read ↗

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.Semantic proximity Read ↗

Mutation of CANT1 causes Desbuquois dysplasia.Semantic proximity Read ↗

Identification of CANT1 mutations in Desbuquois dysplasia.Semantic proximity Read ↗

Antenatal Phenotype of Desbuquois Dysplasia.Semantic proximity Read ↗

Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function.Semantic proximity Read ↗

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.Semantic proximity Read ↗

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.Semantic proximity Read ↗

A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.Semantic proximity Read ↗

[Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I].Semantic proximity Read ↗

XYLT1 mutations in Desbuquois dysplasia type 2.Semantic proximity Read ↗

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