A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby

MING CHEN2018-09-102018-09-102011http://www.scopus.com/inward/record.url?eid=2-s2.0-79953307468&partnerID=MN8TOARShttp://scholars.lib.ntu.edu.tw/handle/123456789/367655A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese babyjournal article10.1002/ajmg.a.33834