title: Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Jurkiewicz
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Piekutowska-Abramczuk
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Marzena
authors.initials: M
authors.lastname: Kucharczyk
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Krystyna H
authors.initials: KH
authors.lastname: Chrzanowska
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Ciara
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome
chemical_list: C492178:ADNP protein, human; D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins