A New Case of Kilquist’s Syndrome with a Novel Variant in SLC12A2 and a Brief Review of the Literature
Hatice Yelda Yalçın(Izmir University), Figen Baydan(Izmir University), Berk Özyılmaz(Izmir University), Yiğithan Güzin(Izmir University), Melis Köse(Children's Hospital of Philadelphia), Gamze Sarıkaya Uzan(Dokuz Eylül University), Tayfun Cinletil(Izmir University)
Cited by 0
Related Papers
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
|Genetics in Medicine|2022|29
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG
|Brain and Development|2020|16
The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy
|Neuropediatrics|2022|9
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
|The Cerebellum|2024|8
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
|Molecular Syndromology|2023|6