The Ehlers-Danlos Syndromes, Rare Types
American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 175C:70–115 (2017) RESEARCH REVIEW The Ehlers–Danlos Syndromes, Rare Types ANGELA F. BRADY, SERWET DEMIRDAS, SYLVIE FOURNEL-GIGLEUX, NEETI GHALI, CECILIA GIUNTA, INES KAPFERER-SEEBACHER, TOMOKI KOSHO, ROBERTO MENDOZA-LONDONO, MICHAEL F. POPE, MARIANNE ROHRBACH, TIM VAN DAMME, ANTHONY VANDERSTEEN, CAROLINE VAN MOURIK, NICOL VOERMANS, JOHANNES ZSCHOCKE, AND FRANSISKA MALFAIT * Dr. Angela F. Brady, F.R.C.P., Ph.D., is a Consultant Clinical Geneticist at the North West Thames Regional Genetics Service, London and she has a specialist interest in Ehlers–Danlos Syndrome. She was involved in setting up the UK National EDS Diagnostic Service which was established in 2009 and she has been working in the London part of the service since 2015. Dr. Serwet Demirdas, M.D., Ph.D., is a clinical geneticist in training at the Erasmus Medical Center (Erasmus University in Rotterdam, the Netherlands), where she is involved in the clinical service and research into the TNX deficient type of EDS. Prof. Sylvie Fournel-Gigleux, Pharm.D., Ph.D., is a basic researcher in biochemistry/pharmacology, Research Director at INSERM (Institut National de la Sante et de la Recherche Medicale) and co-head of the MolCelTEG Research Team at UMR 7561 CNRS-Universite de Lorraine. Her group is dedicated to the pathobiology of connective tissue disorders, in particular the Ehlers–Danlos syndromes, and specializes on the molecular and structural basis of glycosaminoglycan synthesis enzyme defects. Dr. Neeti Ghali, M.R.C.P.C.H., M.D., is a Consultant Clinical Geneticist at the North West Thames Regional Genetics Service, London and she has a specialist interest in Ehlers–Danlos Syndrome.
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