Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

European Journal of Medical Genetics - Tập 65 - Trang 104403 - 2022
Dhanya Lakshmi Narayanan1, Purvi Majethia1, Aroor Shrikiran2, Shahyan Siddiqui3, Ashwin Dalal4, Anju Shukla1
1Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
2Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
3Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India
4Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India

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