NIJMEGEN BREAKAGE SYNDROME

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, dysmorphic facial features, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661d...

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Autors principals: M. Y. Kagan, N. S. Shulakova, R. A. Gumirova, E. A. Zlodeeva, N. V. Resnick
Format: Artigo
Idioma:Inglês
Publicat: Paediatrician Publishers, LLC 2012-06-01
Col·lecció:Pediatričeskaâ Farmakologiâ
Matèries:
nijmegen breakage syndrome
chromosomal instability
immunodeficiency
microcephaly
Accés en línia:https://www.pedpharma.ru/jour/article/view/334
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