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Long-Term Follow-Up of a Case with Nijmegen Breakage Syndrome
Gokturk, Bahar; Genc Yuzuak, Serap; Hazar Sayar, Esra; Yildirim, Mahmut Selman; Reisli, Ismail (2018)The Nijmegen Breakage Syndrome (NBS) is a rare chromosomal instability disorder clinically characterized by microcephaly, typical facial appearance, growth and mental retardation, immunodeficiency and a significant ...