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Keywords: Whole-exome sequencing
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Journal Articles
A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
Available to PurchaseSubject Area:
Endocrinology
, Further Areas
, Genetics
, Pathology and Cell Biology
, Women's and Children's Health
Monica M. França, Antonio M. Lerario, Mariana F.A. Funari, Mirian Y. Nishi, Amanda M. Narcizo, Maricilda P. de Mello, Gil Guerra-Junior, Andrea T. Maciel-Guerra, Berenice B. Mendonça
Journal:
Sexual Development
Sex Dev (2017) 11 (3): 137–142.
Published Online: 08 June 2017
... failure (POF) is a form of female infertility characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women under the age of 40 years. Although several genes have been associated with POF, its causative genes remain to be identified. Here, we used whole-exome sequencing (WES...
