Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome
Tayfun Çinleti(Dokuz Eylül University), Özlem Giray Bozkaya(Dokuz Eylül University), Ahmet Okay Çağlayan(Dokuz Eylül University), Semra Gürsoy(Izmir University), Büşra Bürçe(Dokuz Eylül University), Yağmur Küçümen(Izmir Tepecik Eğitim ve Araştırma Hastanesi), Uluç Yiş(Dokuz Eylül University), Hatice Yelda Yalçın(Izmir University), Gamze Sarıkaya Uzan(Izmir University)
Cited by 0
Related Papers
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
|Journal of Medical Genetics|2021|27
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