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 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.

Journal of medical genetics - 1 May 2011

Su Peiqiang, Ding Hongke, Huang Dongsheng, Zhou Yan, Huang Weijun, Zhong Liangying, Vyse Tim J, Wang Yiming

Abstract excerpt

BACKGROUND: Brachydactyly type A2 (BDA2) is an autosomal dominant disorder. It was recently reported that a 5.9 kb duplication and a 5.5 kb duplication in the region 20p12.2-12.3 are associated with BDA2 in two European families. OBJECTIVE: To characterise a 6-generation Chinese family with 16 members affected by BDA2 and map the gene to 20p12.2-12.3. METHODS AND RESULTS: A 4.6 kb duplication downstream of the...

Read the complete abstract on PubMed

Topics

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

Share to Brachydactyly
Share to Chromosome Breakage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 20

Share to Foot Deformities, Congenital

Share to Gene Order

Share to Hand Deformities, Congenital

Share to Radiography

Source

Identifiers

PMID: 21357617
DOI: 10.1136/jmg.2010.084814

Genes

BMP2

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 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.PMID 21357617Read ↗

Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).Semantic proximity Read ↗

A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2).Semantic proximity Read ↗

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.Semantic proximity Read ↗

BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.Semantic proximity Read ↗

A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Semantic proximity Read ↗

Novel Intragenic Duplication of GATAD2B in a Patient With GAND.Semantic proximity Read ↗

Answering a century old riddle: brachydactyly type A1.Semantic proximity Read ↗

A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree.Semantic proximity Read ↗

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.Semantic proximity Read ↗

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.Semantic proximity Read ↗

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.Semantic proximity Read ↗

A new spontaneous deletion on chromosome 17 including brachyury.Semantic proximity Read ↗

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