Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

Zanetti A.D'Avanzo F.AlSayed M.Brusius-Facchin A.C.YIN-HSIU CHIENGiugliani R.Izzo E.Kasper D.C.Lin H.-Y.Lin S.-P.Pollard L.Singh A.Tonin R.Wood T.Morrone A.Tomanin R.2022-03-282022-03-2820211059-7794https://www.scopus.com/inward/record.uri?eid=2-s2.0-85113310311&doi=10.1002%2fhumu.24270&partnerID=40&md5=f20d682129aaa3598a9e1dfc63c6bd92https://scholars.lib.ntu.edu.tw/handle/123456789/602267[SDGs]SDG3Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variantsjournal article10.1002/humu.24270343879102-s2.0-85113310311