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Ehlers-Danlos syndrome type 6

Known as: EDS6, Ehlers-Danlos Syndrome, Type VI, Ehlers-Danlos syndrome, type 6 
Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene.
National Institutes of Health

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27 relations
ArachnodactylyArterial ruptureAutosomal recessive inheritanceBladder Diverticulum

Broader (1)

Ehlers-Danlos Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
[Predictors of scoliosis in school-aged children].
BACKGROUND Alterations in the spinal column and obesity are on the rise, causing great concern in health and educational strata… 
2008
2008
Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI)
2008
2008
In Vitro Disc Pressure Profiles Below Scoliosis Fusion Constructs
Study Design. Biomechanical human cadaveric study comparing straight and scoliotic spines with healthy and degenerated L4/5 discs… 
2004
2004
Heterogeneous basis of the type VIB form of Ehlers–Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation
Skin fibroblasts from the majority of patients with the clinical diagnosis of Ehlers–Danlos syndrome type VI (EDS VI… 
2000
2000
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.
Screening of full length cDNAs for lysyl hydroxylase 1 (LH1; also PLOD) amplified from dermal fibroblasts from six unrelated… 
1999
1999
A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
In the present study, we have characterized a patient with Ehlers-Danlos syndrome type VI (EDS VI) as homozygous for a… 
1998
1998
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)
Abstract Ehlers-Danlos syndrome type VI (EDS VI) is a rare autosomal recessively inherited disease of connective tissue. The… 
1998
1998
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis.
We report on the unprecedented combination of two recessively inherited disorders, the kyphoscoliosis type of Ehlers-Danlos… 
1997
1997
Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.
Ehlers-Danlos syndrome type VI (EDS VI) is an autosomal recessive disorder of connective tissue characterized by hyperextensible… 
Highly Cited
1984
Highly Cited
1984
Histologic and skeletal abnormalities in benzo(a)pyrene-treated rainbow trout alevins
Histological and skeletal examinations were performed on rainbow trout (Salmo gairdneri Richardson) alevins reared in 0.00, 0.08… 
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