在罕见的 2q23q24 微缺失综合征患者中观察到的可能导致发育延迟的基因 : 文献回顾和对另一位患者的描述。
关键词: Microarray contiguous gene deletion syndrome modifier overlapping deletion
Mesh : Child Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 2 / chemistry Comparative Genomic Hybridization Developmental Disabilities / diagnosis genetics physiopathology Female G Protein-Coupled Inwardly-Rectifying Potassium Channels / deficiency genetics Gene Expression Genetic Association Studies Genotype Humans Mutation N-Acetylgalactosaminyltransferases / deficiency genetics Phenotype
来 源:
DOI:10.1111/cga.12205
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