title: Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.
authors.forename: Y-R
authors.initials: YR
authors.lastname: Wu
authors.forename: S-I
authors.initials: SI
authors.lastname: Hung
authors.forename: Y-C
authors.initials: YC
authors.lastname: Chang
authors.forename: S-T
authors.initials: ST
authors.lastname: Chen
authors.forename: Y-L
authors.initials: YL
authors.lastname: Lin
authors.forename: W-H
authors.initials: WH
authors.lastname: Chung
mesh_terms: D000328:Adult; D020821:Dystonic Disorders / Q000235:genetics* / Q000523:psychology*; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000235:genetics* / Q000523:psychology*; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D009154:Mutation; D010641:Phenotype; D013624:Taiwan
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits