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第40届大卫·W·史密斯畸形与形态发生年度研讨会:2019年年会摘要

40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting.

作者信息

Braddock Stephen R, Lipinski Robert J, Carey John C

机构信息

Department of Pediatrics, Saint Louis University School of Medicine, Saint Louis, Missouri.

Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin.

出版信息

Am J Med Genet A. 2020 Apr;182(4):877-942. doi: 10.1002/ajmg.a.61514.

Abstract

The 40th Annual David W. Smith Workshop on Malformations and Morphogenesis occurred August 23rd -28th, 2019 at the Snowbird Resort in Snowbird, Utah. The Workshop, which honors the legacy of David W. Smith, brought together clinicians and researchers interested in congenital malformations and their underlying mechanisms of morphogenesis from around the world. In addition to mechanisms of morphogenesis and delineation of new syndromes, the Workshop highlighted five themes: deformations, disruptions and fetal dysmorphology; orofacial clefting; central nervous system malformations; ciliopathies; and X-linked intellectual disabilities. This Conference Report includes the abstracts presented at the 2019 Workshop.

摘要

第40届年度大卫·W·史密斯先天性畸形与形态发生研讨会于2019年8月23日至28日在犹他州雪鸟市的雪鸟度假村举行。该研讨会旨在纪念大卫·W·史密斯的遗产,汇聚了来自世界各地对先天性畸形及其形态发生潜在机制感兴趣的临床医生和研究人员。除了形态发生机制和新综合征的描述外,研讨会还突出了五个主题:变形、破坏与胎儿畸形学;口腔颌面部裂隙;中枢神经系统畸形;纤毛病;以及X连锁智力障碍。本会议报告包括在2019年研讨会上发表的摘要。

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