Genomic sequencing of Lowe syndrome trios reveal a mechanism for the heterogeneity of neurodevelopmental phenotypes
Husayn Ahmed Pallikonda, Pramod Kumar Singh, Rajan S. Thakur, Aastha Kumari, Harini Krishnan, Ron George Philip, Anil Vasudevan, Padinjat Raghu
The paper identifies genetic variants contributing to clinical heterogeneity in Lowe syndrome by analyzing genomic data from affected family members.
bioRxiv · Jun 22, 2021 · PreprintGenomics