Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B (lysine acetyltransferase 6B, formerly known as MYST4 and MORF) in thr...

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Bibliografski detalji
Glavni autori: Campeau, Philippe M., Kim, Jaeseung C., Lu, James T., Schwartzentruber, Jeremy A., Abdul-Rahman, Omar A., Schlaubitz, Silke, Murdock, David M., Jiang, Ming-Ming, Lammer, Edward J., Enns, Gregory M., Rhead, William J., Rowland, Jon, Robertson, Stephen P., Cormier-Daire, Valérie, Bainbridge, Matthew N., Yang, Xiang-Jiao, Gingras, Marie-Claude, Gibbs, Richard A., Rosenblatt, David S., Majewski, Jacek, Lee, Brendan H.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2012
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276659/
https://ncbi.nlm.nih.gov/pubmed/22265014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.023
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