Author(s): Rolfs, Prof. Arndt, MD, Alfadhel, Majid, MD, Bertoli-Avella, Aida M., MD, Brandau, Oliver, MD, Kandaswamy, Krishna Kumar, PhD, Bauer, Dr. Peter, MD, Al-Sannaa, Nouriya, Yavuz, Halenur, Al-Tuwaijri, W
A variant in NUDT2 causes a neurodevelopmental disorder. A recent study on 337 patients with various forms of intellectual disability proposed the homozygous nonsense variant c.34C>T (p.Arg12*) in NUDT2 to underlie global developmental delay in 2 affected sisters.
A recent study on 337 patients with various forms of intellectual disability proposed the homozygous nonsense variant c.34C>T (p.Arg12*) in NUDT2 to underlie global developmental delay in 2 affected sisters.
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