Tokyo Scientific Meeting 2019 Presentations

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18 November • Oral Presentations

Atwal, P. Discovery of AEBP1-related Ehlers-Danlos Syndrome.

Byers, P. Vascular Ehlers-Danlos Syndrome: 2019 and Beyond.

Colman, M. Delineating Ehlers-Danlos syndrome, the classical subtype: molecular and clinical characteristics of a large patient cohort.

Francomano, C. Ehlers-Danlos Syndrome, Classical Type.

Hayashi, S. Characteristic findings of vascular Ehlers–Danlos syndrome for helpful of diagnosis.

Kosho, T. Welcome to Tokyo Meeting.

Matsumoto, K. Tenascin-X: a causative gene of classical-like EDS.

Morisaki, H. Clinical features in Adolescence among Genetically Confirmed Vascular Ehlers-Danlos Syndrome in Japanese: A Retrospective Study.

Okuda-Ashitaka, E. Mechanical allodynia in tenascin-X – deficient mice associated with the Ehlers-Danlos syndrome.

Yamaguchi, T. Clinical Sequencing for Vascular Ehlers-Danlos Syndrome Using Panel-Based Next-Generation Sequencing.

Zschocke, J. Periodontal Ehlers-Danlos Syndrome.

19 November • Oral Presentations

Burling, F. ZNF469 heterozygous state found in 9 patients with classical Ehlers-Danlos Syndrome but without Brittle Cornea Syndrome suggests a dominant expression for some ZNF469 genetic abnormalities.

Dhooge, T. Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum.

Green, C. Genetic testing in EDS – the Genetic Counsellor’s role.

Minatogawa, M. Clinical and molecular features of 66 patients with musculocontractural Ehles-Danlos Syndrome caused by mutations in CHST14.

Suzuki, M. Comprehensive Study on Pregnancy, Childbirth, and Childcare of Women with Ehlers-Danlos Syndromes.

Unzaki, A. Delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency.

Yoshizawa, T. Skin and Vascular Abnormalities in Chst14 Gene-Deleted Mice, an Animal Model of Musculocontractual Ehlers-Danlos Syndrome.

Poster Presentations

Ishiguro, H. Transvestism recognized in Ehlers-Danlos syndrome: Report of two cases.

Dong, J. Testing Outcomes of an Exome-Based Panel for Ehlers-Danlos Syndrome.

Sanai, H. Pregnancy-related complications in a woman with Ehlers-Danlos syndrome with biallelic variant in AEBP-1.

Furuhata, M. A novel biallelic mutation in the COL12A1 gene by a nextgeneration sequence revealed myopathic EDS− A case report.

Hanafusa, H. Intestinal ischemia in a 61-years-old man with classical-like Ehlers-Danlos syndrome.

Kawakita, M. Otological features in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14).

Kobayashi, R. Radiological features of hands, feet, and pelvis in patients with musculocontractural EhlersDanlos syndrome caused by mutations in CHST14 (mcEDS-CHST14).

Yu, Y. Whole genome sequencing in a cat with Ehlers-Danlos syndrome.

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