Associated Papers
Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review.
Meng L et al.
Bmc Medical Genomics, 2023
Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.
Liepina L et al.
American Journal of Medical Genetics. Part A, 2022
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.
Akgün-Doğan Ö et al.
Journal of Child Neurology, 2021
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature Genetics, 2019
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