A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

Chen, Kui ; Yang, Ke ; Luo, Su-Shan ; Chen, Chen ; Wang, Ying ; Wang, Yi-Xuan ; Li, Da-Ke ; Yang, Yu-Jie ; Tang, Yi-Lin ; Liu, Feng-Tao ; Wang, Jian ; Wu, Jian-Jun ; Sun, Yi-Min

BMC medical genetics, 2017-08, Vol.18 (1), p.91-91, Article 91 [Periódico revisado por pares]

England: BioMed Central Ltd

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