Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder
Imaizumi, Taichi, Kumakura, Akira, Yamamoto-Shimojima, Keiko, Ondo, YumkoVolume:
7
Language:
english
Journal:
Intractable & Rare Diseases Research
DOI:
10.5582/irdr.2018.01117
Date:
November, 2018
File:
PDF, 561 KB
english, 2018