Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

by Supranee Thongpradit, Natini Jinawath, Natini Jinawath, Asif Javed, Asif Javed, Laran T. Jensen, Issarapa Chunsuwan, Kitiwan Rojnueangnit, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Meng-Shin Shiao, Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon
Published 2020-12-01

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

by Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon
Published 2021-01-01