The first report of a severe classical Ehlers-Danlos syndrome phenotype in two siblings, caused by a homozygous hypomorphic COL5A1 mutationD. S. Johnson, J. M. Bowen, E. Kinning, J. Walsh,B. E. Wagner,R. C. Pollitt,C. Giunta,B. SteinmannEUROPEAN JOURNAL OF HUMAN GENETICS（2018）引用 0|浏览20暂无评分AI 理解论文溯源树样例生成溯源树，研究论文发展脉络Chat Paper正在生成论文摘要
