Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1

Abstract Background Kallmann syndrome (KS) is a common type of idiopathic hypogonadotropic hypogonadism. To date, more than 30 genes including ANOS1 and FGFR1 have been identified in different genetic models of KS without affirmatory genotype-phenotype correlation, and novel mutations have been foun...

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Autores principales: Guoming Chu (Autor), Pingping Li (Autor), Qian Zhao (Autor), Rong He (Autor), Yanyan Zhao (Autor)
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Publicado: BMC, 2023-03-01T00:00:00Z.
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