关键词: Costello syndrome HRAS mutation Retinal Dystrophy
Mesh : Abnormalities, Multiple / genetics physiopathology Adult Child Costello Syndrome / complications genetics physiopathology Genotype Germ-Line Mutation Humans Male Phenotype Proto-Oncogene Mas Proto-Oncogene Proteins p21(ras) / genetics Retinal Dystrophies / complications genetics physiopathology
来 源:
DOI:10.1002/ajmg.a.38110
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