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Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome
Authors:Zweers Manon C  Bristow Jim  Steijlen Peter M  Dean Willow B  Hamel Ben C  Otero Marisol  Kucharekova Martina  Boezeman Jan B  Schalkwijk Joost
Institution:1 Department of Dermatology University Medical Center Nijmegen, Nijmegen, Netherlands
2 Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, Netherlands
3 Department of Pediatrics, University of California at San Francisco, San Francisco
Abstract:
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