Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene.

Autor: Bai, Zhouxian¹ (AUTHOR), Li, Gaopan² (AUTHOR), Kong, Xiangdong¹ (AUTHOR) kongxd@263.net

Publikováno v: BMC Medical Genomics. 2/16/2023, Vol. 16 Issue 1, p1-7. 7p.

[Clinical characteristics and genetic analysis of a Chinese pedigree affected with Alström syndrome].

Autor: Bai Z; Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net., Li G, Wu Q, Kong X

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Sep 10; Vol. 40 (9), pp. 1124-1127.