Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
阐明 HYAL2 缺陷的临床表现和分子基础
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2021.10.014
James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natas