Publications by authors named "Caroline van Mourik"
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
March 2017
Article Synopsis
- * Recent advances have revealed new EDS subtypes and genetic mutations, prompting the International EDS Consortium to propose a revised classification that recognizes 13 subtypes along with specific clinical diagnosis criteria.
- * The revised classification aims to address the genetic and clinical complexity of EDS, emphasizing the importance of genetic testing for most subtypes and improving distinctions between hypermobile EDS and other related disorders.
The Ehlers-Danlos syndromes, rare types.
Angela F Brady Serwet Demirdas Sylvie Fournel-Gigleux Neeti Ghali Cecilia Giunta Caroline van Mourik
Am J Med Genet C Semin Med Genet
March 2017
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes.
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