Skip to search formSkip to main contentSkip to account menu

Acampomelic Campomelic Dysplasia

Known as: Dysplasia, Acampomelic Campomelic, Acampomelic Campomelic Dysplasias, Campomelic Dysplasias, Acampomelic 
A rarer variant of campomelic dysplasia. The characteristics match campomelic dysplasia except that long bone curvature is not present (acampomelia).
National Institutes of Health

Related topics

Related topics

2 relations

Broader (1)

CAMPOMELIC DYSPLASIA
SOX9, HIS165TYR

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Combinatorial CRISPR/Cas9 Approach to Elucidate a Far-Upstream Enhancer Complex for Tissue-Specific Sox9 Expression.
2017
2017
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation
2017
2017
SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements
ABSTRACT Evolutionary conserved transcription factor SOX9, encoded by the dosage sensitive SOX9 gene on chromosome 17q24.3, plays… 
2016
2016
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2…
BACKGROUND Campomelic dysplasia and acampomelic campomelic dysplasia (ACD) are allelic disorders due to heterozygous mutations in… 
2016
2016
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings
Grant sponsor: Lithuanian-Swiss. Correspondence to: Egle Preiksaitiene, M.D., Ph.D., Clinical Geneticist, Department of Human and… 
2009
2009
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia
Mutation Analysis of SOX9 and Single Copy Number Variant Analysis of the Upstream Region in Eight Patients With Campomelic… 
2002
2002
A case of acampomelic campomelic dysplasia.
Acampomelic campomelic dysplasia is a rare variant of campomelic dysplasia syndrome affecting bone and connecting tissue. This… 
Review
2000
Review
2000
Acampomelic campomelic dysplasia with SOX9 mutation
Campomelic dysplasia (CMPD; MIM 114290) is a rare disorder characterised by a distinctive pattern of abnormal skeletal features… 
1998
1998
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to… 
1997
1997
Acampomelic campomelic dysplasia: further radiographic variations.
Acampomelic campomelic dysplasia (ACD) is a rare genetic syndrome affecting bone and connective tissue. This syndrome is a… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)