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The genetics of soft connective tissue disorders

Olivier Vanakker (UGent) , Bert Callewaert (UGent) , Fransiska Malfait (UGent) and Paul Coucke (UGent)
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Abstract
Over the last few years, the field of hereditary connective tissue disorders has changed tremendously. This review highlights exciting insights into three prototypic disorders affecting the soft connective tissue: Ehlers-Danlos syndrome, pseudoxanthoma elasticum, and cutis laxa. For each of these disorders, the identification and characterization of several novel but related conditions or subtypes have widened the phenotypic spectrum. In parallel, the vast underlying molecular network connecting these phenotypes is progressively being uncovered. Identification and characterization (both clinical and molecular) of new phenotypeswithin the connective tissue disorder spectrum are often key to further unraveling the pathways involved in connective tissue biology and delineating the clinical spectrum and pathophysiology of the disorders. Although difficult challenges remain, recent findings have expanded our pathophysiological understanding and may lead to targeted therapies in the near future.
Keywords
pseudoxanthoma elasticum, HYDROXYLYSINE-DEFICIENT COLLAGEN, cutis laxa, next-generation sequencing, Ehlers-Danlos syndrome, gene discovery, EHLERS-DANLOS-SYNDROME, OF-FUNCTION MUTATIONS, RECESSIVE CUTIS LAXA, ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, MISSENSE MUTATION, TENASCIN-X, PSEUDOXANTHOMA-ELASTICUM, V COLLAGEN, SYNDROME TYPE-IV

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Chicago
Vanakker, Olivier, Bert Callewaert, Fransiska Malfait, and Paul Coucke. 2015. “The Genetics of Soft Connective Tissue Disorders.” Ed. A Chakravarti and E Green. Annual Review of Genomics and Human Genetics 16: 229–255.
APA
Vanakker, O., Callewaert, B., Malfait, F., & Coucke, P. (2015). The genetics of soft connective tissue disorders. (A Chakravarti & E. Green, Eds.)Annual Review of Genomics and Human Genetics, 16, 229–255.
Vancouver
1.
Vanakker O, Callewaert B, Malfait F, Coucke P. The genetics of soft connective tissue disorders. Chakravarti A, Green E, editors. Annual Review of Genomics and Human Genetics. 2015;16:229–55.
MLA
Vanakker, Olivier, Bert Callewaert, Fransiska Malfait, et al. “The Genetics of Soft Connective Tissue Disorders.” Ed. A Chakravarti & E Green. Annual Review of Genomics and Human Genetics 16 (2015): 229–255. Print.
@article{6967852,
  abstract     = {Over the last few years, the field of hereditary connective tissue disorders has changed tremendously. This review highlights exciting insights into three prototypic disorders affecting the soft connective tissue: Ehlers-Danlos syndrome, pseudoxanthoma elasticum, and cutis laxa. For each of these disorders, the identification and characterization of several novel but related conditions or subtypes have widened the phenotypic spectrum. In parallel, the vast underlying molecular network connecting these phenotypes is progressively being uncovered. Identification and characterization (both clinical and molecular) of new phenotypeswithin the connective tissue disorder spectrum are often key to further unraveling the pathways involved in connective tissue biology and delineating the clinical spectrum and pathophysiology of the disorders. Although difficult challenges remain, recent findings have expanded our pathophysiological understanding and may lead to targeted therapies in the near future.},
  author       = {Vanakker, Olivier and Callewaert, Bert and Malfait, Fransiska and Coucke, Paul},
  editor       = {Chakravarti, A and Green, E},
  isbn         = {9780824337162},
  issn         = {1527-8204},
  journal      = {Annual Review of Genomics and Human Genetics},
  keywords     = {pseudoxanthoma elasticum,HYDROXYLYSINE-DEFICIENT COLLAGEN,cutis laxa,next-generation sequencing,Ehlers-Danlos syndrome,gene discovery,EHLERS-DANLOS-SYNDROME,OF-FUNCTION MUTATIONS,RECESSIVE CUTIS LAXA,ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE,MISSENSE MUTATION,TENASCIN-X,PSEUDOXANTHOMA-ELASTICUM,V COLLAGEN,SYNDROME TYPE-IV},
  language     = {eng},
  pages        = {229--255},
  title        = {The genetics of soft connective tissue disorders},
  url          = {http://dx.doi.org/10.1146/annurev-genom-090314-050039},
  volume       = {16},
  year         = {2015},
}

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