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The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversityLi, Hongdou ; Cheng, Bingjuan ; Hu, Xuyun ; Li, Chao ; Su, Jiasun ; Zhang, Shanshan ; Li, Ling ; Li, Mengting ; Yang, Kai ; He, Sheng ; Chen, Shaoke ; Wang, Hongyan ; Liu, Geli ; Shen, YipingClinica chimica acta, 2020-01, Vol.500, p.128-134 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |