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Article

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

Reproductive biology and endocrinology : RB&E - 1 Mar 2023

Chu Guoming, Li Pingping, Zhao Qian, He Rong, Zhao Yanyan

Abstract excerpt

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 found. METHODS: A total of 35 unrelated patients with clinical features of disorder of sex development were recruited....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36859276
DOI: 10.1186/s12958-023-01074-w
PMCID: PMC9976430

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