Article
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees.
American journal of medical genetics. Part A - 1 Dec 2014
Castori Marco, Dordoni Chiara, Valiante Michele, Sperduti Isabella, Ritelli Marco, Morlino Silvia, Chiarelli Nicola, Celletti Claudia, Venturini Marina, Camerota Filippo, Calzavara-Pinton Piergiacomo, Grammatico Paola, Colombi Marina
Abstract excerpt
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two markedly overlapping heritable connective tissue disorders. The cumulative frequency of JHS and EDS-HT seems high, but their recognition remains an exclusion diagnosis based on different sets of diagnostic criteria. Although proposed by a panel of experts, clinical identity between JHS and EDS-HT is still a matter...
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