A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management
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DOI: 10.1080/09513590.2019.1626366
Abstract: Abstract Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder leading to chromosomal instability and an array of symptoms, including characteristic facial features (bird-like face), predisposition to malignancies, as well as hypergonadotropic hypogonadism. This… read more here.
Keywords: nijmegen breakage; breakage syndrome; management; ovarian insufficiency ... See more keywords