Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment
一例假性甲状旁腺功能减退症患者,携带新型GNAS移码突变,经乙酰唑胺治疗后血管钙化完全消退,并出现静脉血栓形成。
期刊:Hormone Research in Paediatrics
影响因子:2.7
doi:10.1159/000534456
Seven Menevse, Tuba; Iwasaki, Yorihiro; Yavas Abali, Zehra; Gurpinar Tosun, Busra; Helvacioglu, Didem; Dogru, Ömer; Bugdayci, Onur; Cyr, Sajin M; Güran, Tulay; Bereket, Abdullah; Bastepe, Murat; Turan, Serap