第37届大卫·W·史密斯畸形与形态发生研讨会：2016年年会摘要

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

作者信息

Keppler-Noreuil Kim M, Martinez-Agosto Julian A, Hudgins Louanne, Carey John C

机构信息

National Human Genome Research Institute, NIH, Bethesda, Maryland.

David Geffen School of Medicine at University of California Los Angeles, and Mattel Children's Hospital, Los Angeles, California.

出版信息

Am J Med Genet A. 2017 Aug;173(8):2007-2073. doi: 10.1002/ajmg.a.38229. Epub 2017 May 24.

DOI:10.1002/ajmg.a.38229

PMID:28544249

Abstract

The 37th Annual David W. Smith Workshop on Malformations and Morphogenesis occurred on September 9th-14th, 2016 at the University of California-Los Angeles Conference Center in Lake Arrowhead, CA. 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 five themes besides mechanisms of morphogenesis and New Syndromes: Neural Crestopathies, Mosaicism, Disorders of Skin Pigmentation, Therapies, and Ear Malformations and Hearing Loss. This Conference Report includes the abstracts presented at the 2016 Workshop.

摘要

第37届年度大卫·W·史密斯畸形与形态发生研讨会于2016年9月9日至14日在加利福尼亚州箭头湖的加州大学洛杉矶分校会议中心举行。该研讨会旨在纪念大卫·W·史密斯的遗产，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，研讨会还突出了五个主题：神经嵴病、镶嵌现象、皮肤色素沉着障碍、治疗方法以及耳部畸形与听力损失。本会议报告包含了在2016年研讨会上发表的摘要。