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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)
2007
2007
Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (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… 
1999
1999
A null‐mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers‐Danlos syndrome type VI
A British patient with EDS VI had two novel null mutations in the lysyl hydroxylase gene, one nucleotide deletion in the acceptor… 
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… 
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… 
1997
1997
A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine.
Patients with Ehlers Danlos Syndrome type VI (EDS VI) are biochemically characterized by a deficiency of lysyl hydroxylase (LH… 
Review
1960
Review
1960
Torsion of the Gallbladder in a Kypho-scoliotic Patient
In surgical practice torsion of the gallbladder is an uncommon condition. In I898 the first of such cases was reported by Wendeln… 
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