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

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2019

Ma Jian, Yang Yali, Zhang Kaihui, Huang Yan, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with scoliosis, congenital dislocation of the hip joint and growth retardation by using next generation sequencing (NGS). METHODS: Peripheral blood samples were obtained from the proband and his parents. Whole genomic DNA was extracted and subjected to NGS. Suspected variant was predicted by bioinformatic tools and validated by Sanger sequencing. RESULTS: The...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dwarfism

Share to High-Throughput Nucleotide Sequencing

Share to Joint Instability

Share to Mutation

Share to Ossification, Heterotopic

Share to Polydactyly

Source

Identifiers

PMID: 31813149
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.014

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

[Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I].PMID 31813149Read ↗

Mutation of CANT1 causes Desbuquois dysplasia.Semantic proximity Read ↗

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

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

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

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

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

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

Antenatal Phenotype of Desbuquois Dysplasia.Semantic proximity Read ↗

[Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome].Semantic proximity Read ↗

[Clinical and molecular genetic analysis of a child with Schmid type metaphyseal chondrodysplasia].Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Spondyloocular syndrome due to compound heterozygous variants of XYLT2 gene].Semantic proximity Read ↗

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.Semantic proximity Read ↗

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