A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome

Wang, Q; Wang, C; Wei, WB; Rong, WN; Shi, XY

Shi, XY (通讯作者)，Capital Med Univ, Beijing Tongren Hosp,Beijing Key Lab Intraocular, Beijing Tongren Eye Ctr,Beijing Ophthalmol & Visu, Minist Ind & Informat Technol,Med Artificial Inte, 1 Dong Jiao Min Xiang, Beijing 100730, Peoples R China.;Rong, WN (通讯作者)，Ningxia Med Univ, Clin Med Coll 3, Peoples Hosp Ningxia Hui Autonomous Reg, Ningxia Eye Hosp, Huanghe Rd, Yinchuan 750002, Ningxia, Peoples R China.

BMC MEDICAL GENOMICS, 2022; 15 (1):

Abstract

Background This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein-Taybi syndrome. Methods Case report of a 9-year-o......

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