title: A new mutation of IGHMBP2 gene.
authors.forename: Ulf P
authors.initials: UP
authors.lastname: Guenther
authors.forename: Markus
authors.initials: M
authors.lastname: Schuelke
authors.forename: Katja
authors.initials: K
authors.lastname: Grohmann
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors