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Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8
Author(s) -
Varon Raymonda,
Müer Annika,
Wagner Klaus,
Zierler Hannelore,
Sodia Sigrun,
Rauter Ludwig,
Petek Erwin,
Tönnies Holger,
Neitzel Haidemarie,
Sperling Karl,
Kroisel Peter M.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31540
Subject(s) - uniparental disomy , genetics , karyotype , microcephaly , biology , chromosome , nijmegen breakage syndrome , small supernumerary marker chromosome , failure to thrive , gene , ataxia telangiectasia , dna , dna damage