颅缝病
外显子组测序
错义突变
生物
外显率
遗传学
单倍率不足
外显子组
同源盒
基因
突变
表型
转录因子
作者
Rebecca S Tooze,Kerry A. Miller,Sigrid M. A. Swagemakers,Eduardo Calpena,Simon J. McGowan,Odile Boute,Corinne Collet,David H. Johnson,Fanny Laffargue,Nicole de Leeuw,Jenny V. Morton,Peter Noons,Charlotte W. Ockeloen,Julie Phipps,Tiong Yang Tan,Andrew T. Timberlake,Clémence Vanlerberghe,Steven A. Wall,Astrid Weber,Louise C. Wilson
标识
DOI：10.1016/j.gim.2023.100883
摘要
Studies have previously implicated PRRX1 in craniofacial development, including demonstration of murine Prrx1 expression in the preosteogenic cells of the cranial sutures. We investigated the role of heterozygous missense and loss-of-function (LoF) variants in PRRX1 associated with craniosynostosis.
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