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Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene
The Kallmann syndrome is characterised by the association of hypogonadotropic hypogonadism and hypo/anosmia. It represents a phenotypically and genotypically heterogeneous clinical entity, with six genes identified so far in the literature—KAL1, FGFR1, PROKR2, PROK2, CHD7 and FGF8. Mutations in the...
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| Publié dans: | BMJ Case Rep |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
2012
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4543024/ https://ncbi.nlm.nih.gov/pubmed/22751423 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-12-2011-5380 |
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