Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Varon
Raymonda
R
Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany.
Müer
Annika
A
Wagner
Klaus
K
Zierler
Hannelore
H
Sodia
Sigrun
S
Rauter
Ludwig
L
Petek
Erwin
E
Tönnies
Holger
H
Neitzel
Haidemarie
H
Sperling
Karl
K
Kroisel
Peter M
PM
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