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A case of primary ovarian failure with Nijmegen Breakage a chromosomal instability syndrome

INTRODUCTION: Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive chromosomal instability syndrome, characterized by dysmorphic facial features, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, combined immune deficiency, radiosensitivity, increased r...

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Detalles Bibliográficos
Autores principales: Elif Boncukçuoğlu, Ayşe, Akçay, Seçkin, Üstay, Özlem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10653149/
http://dx.doi.org/10.1210/jcemcr/luac014.050