换一批
换一批[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
作者：
关键词
BRAFCardiofaciocutaneous syndromeCorrelación genotipo-fenotipoEstenosis pulmonar valvularGenotype-phenotype correlationHypertrophic cardiomyopathyLEOPARD syndromeMAP2K1Miocardiopatía hipertróficaNoonan syndromePTPN11Pulmonary valve stenosisRAS-MAPK pathwayRasopathyRasopatíaSíndrome LEOPARDSíndrome cardiofaciocutáneoSíndrome de NoonanVía RAS-MAPK
主题词
氨基酸取代(Amino Acid Substitution);儿童(Child);儿童, 学龄前(Child, Preschool);隐睾(Cryptorchidism);DNA突变分析(DNA Mutational Analysis);侏儒症(Dwarfism);外胚层发育不良症(Ectodermal Dysplasia);面容(Facies);长势不能(Failure to Thrive);女(雌)性(Female);遗传异质性(Genetic Heterogeneity);毛发(Hair);心脏缺损, 先天性(Heart Defects, Congenital);人类(Humans);婴儿(Infant);LEOPARD综合征(LEOPARD Syndrome);语言发展障碍(Language Development Disorders);MAP激酶激酶1(MAP Kinase Kinase 1);MAP激酶信号系统(MAP Kinase Signaling System);男(雄)性(Male);突变, 误义(Mutation, Missense);努南综合征(Noonan Syndrome);点突变(Point Mutation);原癌基因蛋白质类(Proto-Oncogene Proteins);原癌基因蛋白质B-raf(Proto-Oncogene Proteins B-raf);原癌基因蛋白质类p21(ras)(Proto-Oncogene Proteins p21(ras));皮肤(Skin);ras蛋白质类(ras Proteins)
DOI
10.1016/j.medcli.2014.06.009
PMID
25194980
发布时间
2016-11-25
- 浏览21
Medicina clinica
67-72页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
