title: Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A St.,01-211 Warsaw, Poland. krzysztof.szczaluba@imid.med.pl
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczałuba
authors.forename: Hanna
authors.initials: H
authors.lastname: Mierzewska
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.forename: Jolanta
authors.initials: J
authors.lastname: Tryfon
authors.forename: Monika
authors.initials: M
authors.lastname: Bekiesińska-Figatowska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Szczepanik
authors.forename: Krystyna
authors.initials: K
authors.lastname: Chrzanowska
authors.forename: Ewa
authors.initials: E
authors.lastname: Bocian
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics*; D002675:Child, Preschool; D005091:Exons; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000235:genetics* / Q000473:pathology; D058627:Megalencephaly / Q000150:complications / Q000235:genetics* / Q000473:pathology; D049932:Nijmegen Breakage Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D013131:Spine / Q000473:pathology
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins