Publications:

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: 6283C>T; Gln2095X

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

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Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

American Journal Of Human Genetics

Roelfsema, Jeroen H JH; White, Stefan J SJ; Ariyürek, Yavuz Y; Bartholdi, Deborah D; Niedrist, Dunja D; Papadia, Francesco F; Bacino, Carlos A CA; den Dunnen, Johan T JT; van Ommen, Gert-Jan B GJ; Breuning, Martijn H MH; Hennekam, Raoul C RC; Peters, Dorien J M DJ

Publication Date: 2005-04

Variant appearance in text:

PubMed Link: 15706485

Variant Present in the following documents:

• Main text

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