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Updated: Jun 2, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

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Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR

Shinta Yamamoto1, Hanako Nakajima1, Hiroshi Okada1

  • 1Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.

JCEM Case Reports
|January 16, 2025
PubMed

Keywords:
FGFR1GNRHRcongenital hypogonadotropic hypogonadismgene pathogenic variant

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