| 1 | COL1A1, COL1A2, EDS7A1, EDS7A2
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| Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
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| Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT.
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| Clin Genet 82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24.
2012
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| 2 | COL1A1, COL1A2, EDS7A1, EDS7A2
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| The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
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| Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B.
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| Am J Med Genet A 146A(10):1341-6. No abstract available. 2008
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| 3 | 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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| 4 | COL1A1, COL1A2, EDS7A1, EDS7A2
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| Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
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| Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U.
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| Am J Med Genet 72(1):94-105. 1997
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| 5 | COL1A1, EDS7A1
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| A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome Type VII.
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| Weil D, et al.
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| EMBO J 8 : 1705-1710. 1989
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| 6 | EDS7A1
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| Identification of a mutation that causes exon-skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
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| Weil D, et al.
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| J Biol Chem 263 : 8561-8564. 1988
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