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Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.
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| Publicado no: | Clin Case Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7752585/ https://ncbi.nlm.nih.gov/pubmed/33363893 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3370 |
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