Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-SeebacherI, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A,van Mourik C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes,rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi:10.1002/ajmg.c.31550. Review.
Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms ofOsteogenesis Imperfecta. Bone. 2017 Sep;102:40-49. doi:10.1016/j.bone.2017.02.004.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L,Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, DeBacker J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R,Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I,Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM,Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017international classification of the Ehlers-Danlos syndromes. Am J Med Genet CSemin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.
Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A. Totalabsence of the alpha2(I) chain of collagen type I causes a rare form ofEhlers-Danlos syndrome with hypermobility and propensity to cardiac valvularproblems. J Med Genet. 2006 Jul;43(7):e36.
Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V,Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Helical mutations in type Icollagen that affect the processing of the amino-propeptide result in anOsteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78.
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F,Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Osteogenesisimperfecta. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Review.
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decaypathway. Am J Hum Genet. 2004 May;74(5):917-30.
Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis,nomenclature and severity assessment. Am J Med Genet A. 2014 Jun;164A(6):1470-81.doi: 10.1002/ajmg.a.36545.2015 May;167A(5):1178.
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