Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH

• 作者Loredana Boccone; Stefano Mariotti; Valentina Dessì; Dario Pruna; Antonella Meloni; Georgios Loudianos
• 卷第53卷
• 期第6期
• 文件大小278.11KB
• 发表时间2010
• DOI10.1016/j.ejmg.2010.08.001
• 页码392-395