A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: Coincidence or a new entity?

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作者： Yalcinkaya,C. ^[1] ; Erturk,O. ^[2] ; Tuysuz,B. ^[3] ; Yesil,G. ^[4] ; Verbeke,J.I.M.L. ^[5] ; Keyser,B. ^[6] ; Stuhrmann,M. ^[7] ; Steinemann,D. ; Sistermans,E.A. ; VanDerKnaap,M.S.

作者单位： VU University Medical Center, Department of Child Neurology, Amsterdam, Netherlands ^[1] Institut für Humangenetik, Medizinische Hochschule, Hannover, Germany ^[2] Istanbul University, Cerrahpasa Medical Faculty, Department of Neurology, K.M. Pasa, 34098-Istanbul ^[3] Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul, Turkey ^[4] VU University Medical Center, Department of Clinical Genetics, Amsterdam, Netherlands ^[5] Institute of Cell and Molecular Pathology, Medical School, Hannover, Germany ^[6] VU University Medical Center, Department of Radiology, Amsterdam, Netherlands ^[7]

关键词 Hypomyelination Müllerian agenesis Pelizaeus-Merzbacher-like disease

发布时间 2013-11-20

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