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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| 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 |