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Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities

Background: Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of clinical symptoms between different EDS subtypes. Methods: We performed karyotype analysis, gene cop...

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Detalles Bibliográficos
Autores principales:	Zhou, Yuan-Yuan, Du, Yu-Fang, Lu, Qing, Zhai, Xiu-Zhang, Shi, Ming-Fang, Chen, Dan-Yun, Liu, Sun-Rong, Zhong, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024400/ https://www.ncbi.nlm.nih.gov/pubmed/35464846 http://dx.doi.org/10.3389/fgene.2022.853907

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