Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism
在同一家族的四名成员中鉴定出一种新的pax8基因序列变异：从先天性甲状腺功能减退伴甲状腺发育不全到轻度亚临床甲状腺功能减退。
期刊:BMC Endocrine Disorders
影响因子:3.3
doi:10.1186/1472-6823-14-69
Vincenzi, Monica; Camilot, Marta; Ferrarini, Eleonora; Teofoli, Francesca; Venturi, Giacomo; Gaudino, Rossella; Cavarzere, Paolo; De Marco, Giuseppina; Agretti, Patrizia; Dimida, Antonio; Tonacchera, Massimo; Boner, Attilio; Antoniazzi, Franco
