Open Access130. De Novo Mutations in 555 Trios Implicate Chromatin Modification, Transcriptional Regulation, and Retinoic Acid Signaling in Syndromic Craniosynostosis
Author(s) -
Andrew T. Timberlake,
Garrett Allington,
Emre Kiziltug,
Erin M. Wolfe,
John A. Persing,
Richard P. Lifton,
Gene Dx,
Kristopher T. Kahle
Publication year - 2022
Publication title -
plastic and reconstructive surgery. global open
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.759
H-Index - 28
ISSN - 2169-7574
DOI - 10.1097/01.gox.0000842836.76362.eb
Subject(s) - genetics , biology , proband , chromatin , exome , gene , exome sequencing , tbx1 , mutation , promoter , gene expression