Publications by authors named "Hiroo Oomatsu"
Article Synopsis
- A genomic analysis was conducted on 133 Japanese patients with undiagnosed neurodevelopmental disorders, utilizing next-generation sequencing to explore the underlying genetic mechanisms.*
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- The study found that 29.3% of patients had pathogenic or likely pathogenic genetic findings, identifying 18 key genes related to conditions like developmental delay, intellectual disability, autism, and epilepsy.*
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- The results suggest similar genomic backgrounds for Japanese patients compared to other countries, emphasizing the importance of comprehensive molecular diagnosis for genetic counseling, especially in families with X-linked disorders.*
