Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay

Autor: Lin, Yung-Feng, Lin, Tzu-Ching, Kirby, Ralph, Weng, Hui-Ying, Liu, Yen-Ming, Niu, Dau-Ming, Tsai, Shih-Feng, Yang, Chia-Feng
Zdroj: In Molecular Genetics and Metabolism Reports December 2020 25
Databáze: ScienceDirect