机译:删除小鼠Porcn会阻断Wnt配体的分泌并揭示人类局灶性皮肤发育不全/ Goltz综合征的外胚层病因
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112;
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112;
Department of Physiology and Developmental Biology, Brigham Young University, Provo, UT 84602;
Department of Physiology and Developmental Biology, Brigham Young University, Provo, UT 84602;
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112;
epidermis; dermis; hair follicle; skeletal development;
机译:小鼠中Porcn的缺失导致多种发育缺陷和人类局灶性皮肤发育不全(Goltz综合征)模型
机译:局灶性皮肤发育不全(Goltz-Gorlin综合征):一例新病例,其PORCN基因有新变异(c.1250T> C:p.F417S),且脊柱异常。
机译:三种罕见遗传综合征的耳鼻咽喉科疾病表现的治疗:分支眼-眼-面部(BOF),直肠外胚层发育异常(EEC)和局灶性皮肤发育不全(Goltz综合征)。
机译:删除小鼠Porcn会阻断Wnt配体的分泌并揭示人类局灶性皮肤发育不全/ Goltz综合征的外胚层病因
机译:删除小鼠Porcn会阻断Wnt配体的分泌并揭示人类局灶性皮肤发育不全/ Goltz综合征的外胚层病因