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Quoted phrase not found in phrase index: "Ehlers-Danlos syndrome, cardiac valvular type"
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Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M. Ritelli M, et al. Am J Med Genet A. 2017 Jan;173(1):169-176. doi: 10.1002/ajmg.a.38004. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739212
While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The t …
While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodul …
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G. Melis D, et al. Ital J Pediatr. 2012 Nov 16;38:65. doi: 10.1186/1824-7288-38-65. Ital J Pediatr. 2012. PMID: 23158907 Free PMC article.
Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. ...To our knowledge, this is the first report of cardiac valvular involvement in EDS VII B. This fe …
Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibi …
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.
Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T. Shimizu K, et al. Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744491 Review.
Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho Type (ED …
Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-c …
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. Schwarze U, et al. Am J Hum Genet. 2004 May;74(5):917-30. doi: 10.1086/420794. Epub 2004 Apr 9. Am J Hum Genet. 2004. PMID: 15077201 Free PMC article.
Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of exon 6, as well as to mild, moderate, or lethal forms of osteogenesis imperfecta as a consequence of …
Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) beca …