Article
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Human genetics - 1 May 2016
Alazami Anas M, Al-Qattan Sarah M, Faqeih Eissa, Alhashem Amal, Alshammari Muneera, Alzahrani Fatema, Al-Dosari Mohammed S, Patel Nisha, Alsagheir Afaf, Binabbas Bassam, Alzaidan Hamad, Alsiddiky Abdulmonem, Alharbi Nasser, Alfadhel Majid, Kentab Amal, Daza Riza M, Kircher Martin, Shendure Jay, Hashem Mais, Alshahrani Saif, Rahbeeni Zuhair, Khalifa Ola, Shaheen Ranad, Alkuraya Fowzan S
Abstract excerpt
Ehlers-Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes. Many cases of hereditary disorders of connective tissue that do not seem to fit these historical subtypes exist. The aim of this study is to describe...
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