title: H syndrome with a novel homozygous R134C mutation in SLC29A3 gene.
authors.affiliation: Department of Skin & STD, Jawaharlal institute of post graduate medical education and research (JIPMER), Puducherry, India.
authors.forename: Saritha
authors.initials: S
authors.lastname: Mohanan
authors.forename: Laxmisha
authors.initials: L
authors.lastname: Chandrashekar
authors.forename: Robert K
authors.initials: RK
authors.lastname: Semple
authors.forename: Devinder Mohan
authors.initials: DM
authors.lastname: Thappa
authors.forename: Nachiappa Ganesh
authors.initials: NG
authors.lastname: Rajesh
authors.forename: Vir S
authors.initials: VS
authors.lastname: Negi
authors.forename: Reena
authors.initials: R
authors.lastname: Gulati
mesh_terms: D002648:Child; D005145:Face / Q000002:abnormalities; D006720:Homozygote; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D006983:Hypertrichosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D012594:Scleroderma, Localized / Q000235:genetics*; D013577:Syndrome
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human