Article
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
American journal of human genetics - 4 May 2023
Timberlake Andrew T, McGee Stephen, Allington Garrett, Kiziltug Emre, Wolfe Erin M, Stiegler Amy L, Boggon Titus J, Sanyoura May, Morrow Michelle, Wenger Tara L, Fernandes Erica M, Caluseriu Oana, Persing John A, Jin Sheng Chih, Lifton Richard P, Kahle Kristopher T, Kruszka Paul
Abstract excerpt
Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian forms of syndromic CS are well described, but a genetic etiology remains elusive in a substantial fraction of probands. Analysis of exome sequence data from 526 proband-parent trios with syndromic CS identified a marked excess (observed 98, expected 33, p = 4.83 × 10-20) of damaging de novo variants (DNVs) in genes highly...
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