Article
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Human genetics - 1 Jan 2023
Timberlake Andrew T, Kiziltug Emre, Jin Sheng Chih, Nelson-Williams Carol, Loring Erin, Allocco August, Marlier Arnaud, Banka Siddharth, Stuart Helen, Passos-Buenos Maria Rita, Rosa Rafael, Rogatto Silvia R, Tonne Elin, Stiegler Amy L, Boggon Titus J, Alperovich Michael, Steinbacher Derek, Staffenberg David A, Flores Roberto L, Persing John A, Kahle Kristopher T, Lifton Richard P
Abstract excerpt
Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of the cranial suture between the parietal and occipital bones. Predominantly sporadic, it is the rarest form of CS and its genetic etiology is largely unexplored. Exome sequencing of 25 kindreds, including 18 parent-offspring trios with sporadic lambdoid CS, revealed a marked excess of damaging (predominantly missense) de novo...
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