Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征
期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.52225
McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G