title: Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene.
authors.affiliation: GenoMed, Institute of Molecular Medicine, Lisbon Funchal Hospital Center, Madeira, Portugal.
authors.forename: Heloísa Gonçalves
authors.initials: HG
authors.lastname: Santos
authors.forename: Helena C
authors.initials: HC
authors.lastname: Fernandes
authors.forename: José L
authors.initials: JL
authors.lastname: Nunes
authors.forename: Maria R
authors.initials: MR
authors.lastname: Almeida
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D011174:Portugal; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: C477370:DYM protein, human; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins