@article{e44ef6dd1d694b2d97862ccc374eb996,
title = "RBPJ mutations identified in two families affected by Adams-Oliver syndrome",
abstract = "Through exome resequencing, we identified two unique mutations in recombination signal binding protein for immunoglobulin kappa J (RBPJ) in two independent families affected by Adams-Oliver syndrome (AOS), a rare multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects. These identified mutations link RBPJ, the primary transcriptional regulator for the Notch pathway, with AOS, a human genetic disorder. Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes.",
author = "Hassed, {Susan J.} and Wiley, {Graham B.} and Shaofeng Wang and Lee, {Ji Yun} and Shibo Li and Weihong Xu and Zhao, {Zhizhuang J.} and Mulvihill, {John J.} and James Robertson and James Warner and Gaffney, {Patrick M.}",
note = "Funding Information: We thank the individuals who participated in this research through contribution of personal health information and samples without the expectation of personal gain, as well as fellow medical professionals who referred them. We thank Hong Chen and Courtney Griffin for providing advice on the experimental design. We thank Xiao-Hong Sun for critically reading and providing advice on the content of the manuscript. This work was funded through an Oklahoma Medical Research Foundation Research Grant (9138-12 to P.M.G.). ",
year = "2012",
month = aug,
day = "10",
doi = "10.1016/j.ajhg.2012.07.005",
language = "English",
volume = "91",
pages = "391--395",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "2",
}