A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement

Authors:	Symoens Sofie Malfait Fransiska Vlummens Philip Hermanns-Lê Trinh Syx Delfien De Paepe Anne

Affiliation:	Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium. Sofie.Symoens@UGent.be

Abstract:

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