Costello 综合征 : 临床表型 ,基因型 ,和管理指南。
关键词: Costello syndrome HRAS mutation RAS/MAPK RASopathy management guidelines
Mesh : Abnormalities, Multiple / genetics physiopathology Costello Syndrome / genetics physiopathology therapy Developmental Disabilities / genetics physiopathology Disease Management Face / abnormalities Gene Expression Regulation / genetics Genotype Germ-Line Mutation / genetics Guidelines as Topic Heart / physiopathology Heart Defects, Congenital / genetics physiopathology Humans Phenotype Proto-Oncogene Proteins p21(ras) / genetics
来 源:
DOI:10.1002/ajmg.a.61270
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