换一批Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
第一作者：
H,Vega
第一单位：
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of City University of New York, New York, NY 10029, USA. hhvegaf@unal.edu.co
作者：
医学主题词
畸形, 多发性(Abnormalities, Multiple);乙酰基转移酶类(Acetyltransferases);染色体蛋白质类, 非组蛋白(Chromosomal Proteins, Non-Histone);密码子(Codon);颅面骨畸形(Craniofacial Abnormalities);发育障碍(Developmental Disabilities);女(雌)性(Female);基因表达(Gene Expression);遗传变异(Genetic Variation);人类(Humans);婴儿(Infant);男(雄)性(Male);突变, 误义(Mutation, Missense);表型(Phenotype);蛋白质结构, 三级(Protein Structure, Tertiary);序列缺失(Sequence Deletion);综合征(Syndrome)
DOI
10.1136/jmg.2009.068395
PMID
19574259
发布时间
2025-05-29
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