TCF4基因突变所致皮特-霍普金斯综合征1例  

A case of Pitt-Hopkins Syndrome caused by TCF4 gene mutation

作　　者：詹英杰[1] 蓝悦 文宇 侯书灵 林骏驰 ZHAN Ying-jie;LAN Yue;WEN Yu;HOU Shu-ling;LIN Jun-chi(Maternal and Child Health Hospital of Zhanjiang,Zhanjiang 524038,China)

机构地区：[1]广东省湛江市妇幼保健院,广东湛江524038

出　　处：《广东医科大学学报》2020年第3期374-376,共3页Journal of Guangdong Medical University

摘　　要：皮特-霍普金斯综合征(PTHS)是一种罕见的神经发育障碍性疾病,临床特征包括特殊面容、小头畸形、智力障碍、运动及语言发育障碍等。该文报道了1例TCF4突变[c.1619A>G(p.Asp540Gly)]所致的PTHS。Pete-Hopkins syndrome(PTHS)is a rare neurodevelopmental disorder characterized by distinctive facial features,microcephaly,intellectual disability,motor and language disorders,and so on.We report a case of PTHS caused by TCF4 gene mutation[c.1619A>G(p.Asp540Gly)].

关 键 词：皮特-霍普金斯综合征 TCF4 基因突变 

分 类 号：R729[医药卫生—儿科]