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Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant
Jaewon Choe, Jae Hyun Kim, Young Ah Kim, Jieun Lee
Ann Pediatr Endocrinol Metab. 2020;25(3):192-197.   Published online July 29, 2020
DOI: https://doi.org/10.6065/apem.1938148.074

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Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant
Annals of Pediatric Endocrinology & Metabolism. 2020;25(3):192-197   Crossref logo
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Familial case of normosmic hypogonadotropic hypogonadism with polydactyly, associated with defect of FGFR1 gene
Problems of Endocrinology. 2018;64(1):38-41   Crossref logo
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Loss-of-function mutation in FGFR1 gene as a cause of idiopathic hypogonadotropic hypogonadism
European Urology Supplements. 2019;18(1):e1258   Crossref logo
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Identification of a mutation that perturbs FGFR1 gene splicing from an idiopathic hypogonadotropic hypogonadism patient using a minigene assay
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Novel Mutations in FGFR1 Causing Idiopathic Hypogonadotropic Hypogonadism: A Cohort Study in Eastern Indian Population
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Idiopathic Hypogonadotropic Hypogonadism
Encyclopedia of Genetics, Genomics, Proteomics and Informatics. 2008;954-954   Crossref logo
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Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation
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SUN-032 Digenic Inheritance of PCSK1 and CHD7 Mutations in PAX4 Homozygous Diabetic Male with Normosmic Hypogonadotropic Hypogonadism
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Kallmann's Syndrome and Idiopathic Hypogonadotropic Hypogonadism
Encyclopedia of Endocrine Diseases. 2004;119-124   Crossref logo
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Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family
Hormone Research in Paediatrics. 2019;91(1):9-16   Crossref logo
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