¡¡¡¡5ÔÂ24ÈÕÖÁ28ÈÕ£¬½ðɳjs55µÇ½»ù´¡Ò½½ðɳjs55µÇ½ʵÑ鶯Îïѧϵ¹ùÁú½ÌÊÚÊÜÑû¸°·¨¹úÂíÈü²Î¼ÓÅ·Ö޸ƻ¯×é֯лᣨEuropean Calcified Tissue Society£©Äê»á£¬¾Í¡°¹ù-¿²²¨Ðͼ¹Öù¹Ç÷¿·¢Óý²»Á¼£¨spondylo-epi-metaphyseal dysplasia, Guo-Campeau type£©¡±µÄ·¢ÏÖ¡¢ÃüÃû¡¢Ö²¡»ùÒò¡¢ÒÔ¼°·¢²¡»úÖÆµÄÑо¿½øÐÐÁË´ó»á·¢ÑÔ¡£
¡¡¡¡¡°¹ù-¿²²¨Ðͼ¹Öù¹Ç÷¿·¢Óý²»Á¼¡±ÊǹùÁú½ÌÊÚÍŶӽüÄêÀ´·¢ÏÖºÍÃüÃûµÄµÚ5¸öеÄÈËÀັ¼û²¡£¨Am J Hum Genet 2023£©£¬×î½üÒѾ»ñµÃOMIM£¨Online Mendelian Inheritance in Man£©Êý¾Ý¿âµÄÈϿɣ¨#620663£©¡£OMIMÓÉÔ¼º²»ôÆÕ½ð˹´óѧ´´Á¢ºÍά»¤£¬ËùÊÕ¼ÄÚÈݾù¾¹ýÄÚ²¿×¨¼ÒµÄ¶ÀÁ¢ÆÀÉó£¬ÊÇҽѧÒÅ´«Ñ§×îȨÍþµÄ°Ù¿ÆÈ«Êé¡£´ËÍ⣬¹ùÁú½ÌÊÚÍŶӻ¹·¢Ïָü²²¡ÓÉERI1»ùÒòÍ»±äËùÒýÆð£¬ÀûÓûùÒòÐÞÊÎСÊóÒÔ¼°»¼ÕßiPSC-Èí¹ÇÀàÆ÷¹Ù¹¹½¨Á˼²²¡Ä£ÐÍ£¬½øÒ»²½²ûÃ÷ERI1½éµ¼µÄRNA´úл»î¶¯²ÎÓëÈËÀàÈí¹Ç·¢ÓýÕâһеÄÉúÎïѧ»úÖÆ¡£
¡¡¡¡Å·Ö޸ƻ¯×é֯лᴴÁ¢ÓÚ1963Ä꣬ÊÇȫŷÖÞ¹Ç÷ÀµÈ¸Æ»¯×éÖ¯¼²²¡Ñо¿ÁìÓòÓ°ÏìÁ¦×î´óµÄѧ»á¡£¡°¹ù-¿²²¨Ðͼ¹Öù¹Ç÷¿·¢Óý²»Á¼¡±¼°Æä·¢²¡»úÖÆµÄÑо¿µÃµ½ÁËÓë»áר¼ÒµÄ¹ã·ºÈϿɣ¬ÓÉлáÖ÷ϯPeter PietschmannÊÚÓèEast-meets-West Award¡£