Publications:

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Bmc Medical Genetics

Al-Qattan, Mohammad M MM; Jarman, Abdulaziz A; Rafique, Atif A; Al-Hassnan, Zuhair N ZN; Al-Qattan, Heba M HM

Publication Date: 2019-01-11

Variant appearance in text: CREBBP: 4963del

PubMed Link: 30635043

Variant Present in the following documents:

• Main text
• 12881_2019_Article_747.pdf

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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: 4963delC; Leu1655fs

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bmc Medical Genetics

Bentivegna, Angela A; Milani, Donatella D; Gervasini, Cristina C; Castronovo, Paola P; Mottadelli, Federica F; Manzini, Stefano S; Colapietro, Patrizia P; Giordano, Lucio L; Atzeri, Francesca F; Divizia, Maria T MT; Uzielli, Maria L Giovannucci ML; Neri, Giovanni G; Bedeschi, Maria F MF; Faravelli, Francesca F; Selicorni, Angelo A; Larizza, Lidia L

Publication Date: 2006-10-19

Variant appearance in text: CREBBP: 4963delC

PubMed Link: 17052327

Variant Present in the following documents:

• Main text
• 1471-2350-7-77.pdf

View BVdb publication page