title: A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.
authors.affiliation: Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan.
authors.forename: Gwo-Chin
authors.initials: GC
authors.lastname: Ma
authors.forename: Yu-Yuan
authors.initials: YY
authors.lastname: Ke
authors.forename: Shun-Ping
authors.initials: SP
authors.lastname: Chang
authors.forename: Dong-Jay
authors.initials: DJ
authors.lastname: Lee
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics*; D006200:Hair Color / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009081:Mucolipidoses / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics*
chemical_list: D017855:Transferases (Other Substituted Phosphate Groups); C511050:GNPTAB protein, human