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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 Purchase
Subject 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.
https://doi.org/10.1159/000477193
Published Online: 08 June 2017
...-stimulating hormone receptor ( FSHR ) gene was found in both affected siblings in a homozygous state and in their parents in a heterozygous state. This FSHR variant is not present in available databases (1000 Genomes and NHLBI/EVS) and Brazilian exome controls. Moreover, it is highly conserved and predicted...
View articletitled, A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
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