表型到基因型方法揭示了自闭症谱系障碍队列中头围相关基因。
关键词: autism spectrum disorder genotype and phenotype correlations macrocephaly microcephaly whole-exome sequencing
Mesh : Autism Spectrum Disorder / blood complications genetics Cohort Studies Cytoskeletal Proteins / genetics DNA-Binding Proteins / genetics Female Genetic Association Studies / methods Genetic Predisposition to Disease / genetics Genotype Head / anatomy & histology growth & development Humans INDEL Mutation Inhibitor of Apoptosis Proteins / genetics Large-Conductance Calcium-Activated Potassium Channel alpha Subunits / genetics Male Megalencephaly / complications genetics Microcephaly / complications genetics Nerve Tissue Proteins / genetics PTEN Phosphohydrolase / genetics Phenotype Polymorphism, Single Nucleotide Transcription Factors / genetics Exome Sequencing beta Karyopherins / genetics
来 源:
DOI:10.1111/cge.13665
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