因 HRAS 突变影响密码子 146 而导致 Costello 综合征表型减弱的新患者 - 文献综述和更新.
关键词: Costello syndrome HRAS mutation RASopathy
Mesh : Amino Acid Substitution Cardiomyopathy, Hypertrophic / diagnosis genetics pathology Child, Preschool Costello Syndrome / diagnosis genetics pathology DNA Mutational Analysis Developmental Disabilities / diagnosis genetics pathology Gene Expression Humans Male Mutation, Missense Proto-Oncogene Proteins p21(ras) / genetics
来 源:
DOI:10.1002/ajmg.a.38118
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