Genetic Analysis of Limb Malformation Disorders: Freeman Sheldon Syndrome Exome Sequencing Study (LMD-FSS)
收藏DataCite Commons2026-04-09 更新2025-05-18 收录
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https://gen3.biodatacatalyst.nhlbi.nih.gov/discovery/phs000204.v1.p1.c1/
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资源简介：
The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures.
The exome sequences of four unrelated individuals were obtained by massively parallel DNA sequencing. The three individuals were affected with Freeman Sheldon syndrome (OMIM: [193700](http://www.ncbi.nlm.nih.gov/omim/193700)).
提供机构：
NHLBI BioData Catalyst
创建时间：
2025-05-06
