Nijmegen breakage syndrome: a case report

Nijmegen breakage syndrome is a very rare, autosomal recessively inherited genetic disease. It is among a group of diseases named “chromosomal instability syndromes”. It is clinically characterized with microcephaly, a facial appearance named also as “bird face”, growth retardation, immune deficienc...

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Bibliographische Detailangaben

Veröffentlicht in:	Gülhane tıp dergisi 2010-09, Vol.52 (3), p.205
Hauptverfasser:	A. Avni Atay, Azık, Fatih M, Sarıcı, S Ümit, Okutan, Vedat, Eker, İbrahim, Kürekçi, A Emin
Format:	Artikel
Sprache:	eng ; tur
Schlagworte:	Anemia
Online-Zugang:	Volltext
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