Publications:

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family.

Frontiers In Genetics

Lin, Shaobin S; He, Zhiming Z; Huang, Linhuan L; Liu, Jialiu J; Lei, Ting T; Wu, Jianzhu J; Huang, Peizhi P; Zhou, Yi Y; Luo, Yanmin Y

Publication Date: 2021

Variant appearance in text: RSTS: 3096dup

PubMed Link: 33747050

Variant Present in the following documents:

• Main text
• fgene-12-640992.pdf

View BVdb publication page

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

International Journal Of Molecular Sciences

Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N

Publication Date: 2015-03-11

Variant appearance in text: CREBBP: 3096dupT; Lys1033X

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

View BVdb publication page