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

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. METHO...

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Detalles Bibliográficos
Autores principales: Chu, Guoming, Li, Pingping, Zhao, Qian, He, Rong, Zhao, Yanyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976430/
https://www.ncbi.nlm.nih.gov/pubmed/36859276
http://dx.doi.org/10.1186/s12958-023-01074-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976430/
https://www.ncbi.nlm.nih.gov/pubmed/36859276
http://dx.doi.org/10.1186/s12958-023-01074-w

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