Nicolette Murphey1, Blair Stevens1,2, Kestutis Micke3,4

  • 1McGovern Medical School at UTHealth Houston, The University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences, Houston, Texas, USA.

PubMed
概括

分子遗传检测准确诊断骨发育不良,面板和外基因组测序检测到96%的综合征. 这有助于改善复发风险评估和对疑似骨发育不良病例的家庭指导.

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