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Akemi Ono
Biomedicine, general
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Article
Open AccessMolecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross...
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Article
Open AccessDetection of 1p36 deletion by clinical exome-first diagnostic approach
Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those obs...
