现代医学ModernMedicalJournal2023,Apr;51(4):550-554733-739.[17]SHEPHERDJ,WALLERA,SANSON-FISHERR,etal.Knowledgeof,andparticipationin,advancecareplanning:Across-sectionalstudyofacuteandcriticalcarenurses'percep-tions[J].IntJNursStud,2018,56(6):74-81.[18]DEBOERRA,HULOTJS,TOCCHETTICG,etal.Commonmechanisticpathwaysincancerandheartfailure.AscientificroadmaponbehalfoftheTranslationalResearchCommitteeoftheHeartFailureAssociation(HFA)oftheEuropeanSocietyofCardiology(ESC)[J].EurJHeartFail,2020,22(12):2272-2289.[19]郑战战,杨贝贝,宋婷,等.慢性心力衰竭患者健康素养现状及其影响因素分析[J].中国护理管理,2019,19(1):23-29.[20]ALZGHOULBI,ABDULLAHNA.Painmanagementprac-ticesbynurses:anapplicationoftheknowledge,attitudeandpractices(KAP)model[J].GlobJHealthSci,2015,8(6):154-160.[21]王晓琪,陈美君,云青萍,等.门诊患者健康素养对就医体验的影响及机制[J].北京大学学报(医学版),2021,53(3):560-565.[22]MOR-ANAVYS,LEV-ARIS,LEVIN-ZAMIRD.Healthliter-acy,primarycarehealthcareproviders,andcommunication[J].HealthLitResPract,2021,5(3):e194-e200.[23]RIETJENSJ,KORFAGEI,VANDERHEIDEA.Advancecareplanning:notapanacea[J].PalliatMed,2016,30(5):421-422.[收稿日期]2022-11-11[修回日期]2023-03-12[基金项目]江苏省人口学会资助科研项目(ISPA2019019)[作者简介]周亚男(1990-),女,江苏宿迁人,技师。E-mail:15952086228@163.com[通信作者]王谦倩E-mail:qianq_wang@163.com[引文格式]周亚男,刘倩琦,李荣,等.TCF20基因新发c.1198C>T杂合突变致发育迟缓伴各种智力障碍和行为异常一例并文献复习[J].现代医学,2023,51(4):550-554.·病例报告·TCF20基因新发c.1198C>T杂合突变致发育迟缓伴各种智力障碍和行为异常一例并文献复习周亚男,刘倩琦,李荣,吴丹丹,王谦倩(南京医科大学附属儿童医院儿童保健科,江苏南京210008)[摘要]目的:分析1例药物治疗无效的发育迟缓伴各种智力障碍和行为异常(DDVIBA)患儿,外显子测序TCF20基因单核苷酸变异,提高对基因变异在DDVIBA作用中的认识。方法:报道1例DDVIBA患者的临床表现,外显子测序TCF20基因突变,并通过文献复习分析...