Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

Sandra Donkervoort, Ying Hu, Tanya Stojkovic, Nicol C. Voermans, A. Reghan Foley, Meganne E. Leach, Jahannaz Dastgir, Véronique Bolduc, Thomas Cullup, Alix de Becdelièvre, Lin Yang, Hai Su, Katherine Meilleur, Alice B. Schindler, Erik Jan Kamsteeg, Pascale Richard, Russell J. Butterfield, Thomas L. Winder, Thomas O. Crawford, Robert B. WeissFrancesco Muntoni, Valérie Allamand, Carsten G. Bönnemann

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Medicine & Life Sciences