title: Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
authors.affiliation: Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany.
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
authors.forename: Annika
authors.initials: A
authors.lastname: Müer
authors.forename: Klaus
authors.initials: K
authors.lastname: Wagner
authors.forename: Hannelore
authors.initials: H
authors.lastname: Zierler
authors.forename: Sigrun
authors.initials: S
authors.lastname: Sodia
authors.forename: Ludwig
authors.initials: L
authors.lastname: Rauter
authors.forename: Erwin
authors.initials: E
authors.lastname: Petek
authors.forename: Holger
authors.initials: H
authors.lastname: Tönnies
authors.forename: Haidemarie
authors.initials: H
authors.lastname: Neitzel
authors.forename: Karl
authors.initials: K
authors.lastname: Sperling
authors.forename: Peter M
authors.initials: PM
authors.lastname: Kroisel
mesh_terms: D000328:Adult; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009035:Mothers; D049932:Nijmegen Breakage Syndrome / Q000175:diagnosis / Q000235:genetics*; D024182:Uniparental Disomy