| 1 | EDS6, PLOD1
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| Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.
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| van Dijk FS, Mancini GMS, Maugeri A, Cobben JM.
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| Eur J Med Genet 60(10):536-540. doi: 10.1016/j.ejmg.2017.07.011. Epub 2017 Jul 27.
2017
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| 2 | EDS6, PLOD1
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| Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.
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| Abdalla EM, Rohrbach M, Bürer C, Kraenzlin M, El-Tayeby H, Elbelbesy MF, Nabil A, Giunta C.
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| Eur J Pediatr 174(1):105-12. doi: 10.1007/s00431-014-2429-9. Epub 2014 Oct 3.
2015
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| 3 | EDS6, PLOD1
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| A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.
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| Tosun A, Kurtgoz S, Dursun S, Bozkurt G.
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| Pediatr Neurol 51(4):566-9. doi: 10.1016/j.pediatrneurol.2014.06.020. Epub 2014 Jul 10.
2014
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| 4 | EDS6, PLOD1
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| Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
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| Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B.
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| Am J Med Genet A 133(2):158-64. 2005
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| 5 | EDS6, PLOD1
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| Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
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| Giunta C, Randolph A, Steinmann B.
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| Mol Genet Metab 86(1-2):269-76. Epub 2005 Jun 24. 2005
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| 6 | EDS6
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| Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.
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| Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B.
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| Am J Med Genet 124A(1):28-34. 2004
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| 7 | EDS6, PLOD1, TLH1
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| The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine.
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| Eyre D, Shao P, Ann Weis M, Steinmann B.
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| Mol Genet Metab 76(3):211-6. 2002
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| 8 | EDS6, PLOD1
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| Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of ehlers-danlos syndrome type VI.
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| Yeowell HN, Walker LC.
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| Mol Genet Metab 71(1-2):212-24. 2000
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| 9 | EDS6
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| A patient with ehlers-danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
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| Walker LC, et al.
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| Mol Genet Metab 67(1):74-82. 1999
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| 10 | EDS6, PLOD1
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| A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
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| Pousi B, Hautala T, Hyland JC, Schroter J, Eckes B, Kivirikko KI, Myllyla R.
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| Hum Mutat 11(1):55-61. 1998
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| 11 | EDS6, PLOD1
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| A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.
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| Pajunen L, Suokas M, Hautala T, Kellokumpu S, Tebbe B, Kivirikko KI, Myllyla R.
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| DNA Cell Biol 17(2):117-23. 1998
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| 12 | EDS1A, EDS1B, EDS2, EDS3, EDS4A, EDS6, EDS7A1, EDS7A2, EDS10, OHS
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| Ehlers-Danlos syndromes : revised nosology, Villefranche, 1997.
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| Beighton P, et al.
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| Am J Med Genet 77 : 31-37. 1998
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| 13 | EDS6, PLOD1
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| Ehlers-Danlos syndrome type VI : lysyl hydroxylase deficiency due to a novel point mutation (W612C).
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| Brinckmann J, et al.
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| Arch Dermatol Res 290 : 181-186. 1998
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| 14 | EDS6, PLOD1
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| Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
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| Heikkinen J, et al.
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| Am J Hum Genet 60 : 48-56. 1997
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| 15 | EDS6, PLOD1
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| Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.
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| Pasquali M, et al.
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| Proc Assoc Am Physicians 109 : 33-41. 1997
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| 16 | PLOD1, EDS6
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| Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.
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| Pousi B, et al.
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| Am J Hum Genet 55 : 899-906. 1994
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| 17 | PLOD1, EDS6
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| Structure and expression of the human lysyl hydroxylase gene (PLOD) : introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
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| Heikkinen J, et al.
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| Genomics 24 : 464-471. 1994
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| 18 | EDS6
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| A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.
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| Hautala T, et al.
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| Genomics 15 : 399-404. 1993
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| 19 | EDS6, PLOD1
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| A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
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| Hyland J, et al.
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| Nat Genet 2 : 228-231. 1992
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