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第38届大卫·W·史密斯畸形与形态发生年度研讨会:2017年年会摘要

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.

作者信息

Stevens Cathy A, Krantz Ian

机构信息

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

Division of Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania.

出版信息

Am J Med Genet A. 2018 Apr 25:1463-1536. doi: 10.1002/ajmg.a.38698.

Abstract

The 38th Annual David W. Smith Workshop on Malformations and Morphogenesis occurred on August 26th - 29th, 2017 at the Stoweflake Resort and Conference Center in Stowe, VT. 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. The Workshop highlighted four themes besides mechanisms of morphogenesis and new syndromes: Disorders of Transcriptional Regulation, Dysmorphology (Syndromes and Malformations) in Minority and Unique Populations, Syndromes and Isolated Birth Defects Involving Malformations of the Developing Foregut, and the Natural History of Syndromes. This Conference Report includes the abstracts presented at the 2017 Workshop.

摘要

第38届年度大卫·W·史密斯畸形与形态发生研讨会于2017年8月26日至29日在佛蒙特州斯托的斯托弗莱克度假酒店及会议中心举行。该研讨会以大卫·W·史密斯的遗产为荣耀,汇聚了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外,研讨会还突出了四个主题:转录调控障碍、少数族裔和特殊人群中的畸形学(综合征与畸形)、涉及发育中的前肠畸形的综合征和孤立性出生缺陷,以及综合征的自然史。本会议报告包含了在2017年研讨会上发表的摘要。

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