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

6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay.

Gene - 1 Jul 2013

Chen Chih-Ping, Lin Shuan-Pei, Liu Yu-Peng, Chern Schu-Rern, Wu Peih-Shan, Chen Yu-Ting, Su Jun-Wei, Lee Chen-Chi, Wang Wayseen

Abstract excerpt

We present an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay, poor wound healing and a 6p21.2-p12.3 deletion detected by aCGH. The patient was previously found to have a normal karyotype on conventional cytogenetic analysis and no RUNX2 mutation on sequence analysis. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CUL7, VEGFA, NFKBIE and...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 6
Share to Cleidocranial Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Core Binding Factor Alpha 1 Subunit

Share to Cullin Proteins

Share to Haploinsufficiency

Share to I-kappa B Proteins

Share to Metaphase

Share to Wound Healing

Source

Identifiers

PMID: 23578800
DOI: 10.1016/j.gene.2013.03.121

Genes

RUNX2
CUL7
NFKBIE
VEGFA

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

6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay.PMID 23578800Read ↗

Cleidocranial Dysplasia with 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review.Semantic proximity Read ↗

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 familiesSemantic proximity Read ↗

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.Semantic proximity Read ↗

Clinical spectrum of cleidocranial dysplasia in a family with twins.Semantic proximity Read ↗

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.Semantic proximity Read ↗

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.Semantic proximity Read ↗

Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.Semantic proximity Read ↗

Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations.Semantic proximity Read ↗

Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion.Semantic proximity Read ↗

[Clinical and molecular study in a family with cleidocranial dysplasia].Semantic proximity Read ↗

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.Semantic proximity Read ↗

Molecular Genetics of Cleidocranial Dysplasia.Semantic proximity Read ↗

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