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Keywords: Homozygous missense
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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
.... FSHR Homozygous missense Hypergonadotropic hypogonadism Infertility Whole-exome sequencing Hypergonadotropic hypogonadism (HH) is characterized by elevated gonadotropin levels which cause a primary gonadal failure. Although a number of chromosome abnormalities have been associated with HH...
