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Clinical and molecular characteristics of SLC16A2 (MCT8) mutations in three families with the Allan-Herndon-Dudley syndrome
Novara, Francesca, Groeneweg, Stefan, Freri, Elena, Estienne, Margherita, Reho, Paolo, Matricardi, Sara, Castellotti, Barbara, Visser, W. Edward, Zuffardi, Orsetta, Visser, Theo J.Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23140
Date:
November, 2016
File:
PDF, 455 KB
english, 2016