两名患有SMAD4相关的青少年多发症综合征的患者的大型和中型动脉动脉瘤

Wenneke van Weelden1, Fonnet E Bleeker1,2, Diana van Stijn3

  • 1Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

概括

生殖系SMAD4致病变体导致青少年多发症综合征 (JPS),导致胃肠道问题和癌症风险增加. 这项研究突出了更广泛的血管表型,包括动脉动脉瘤,可能扩大JPS谱.

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