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A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome
SUMMARY: The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH)-producing neurons during embryonic de...
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| Publicat a: | Endocrinol Diabetes Metab Case Rep |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Bioscientifica Ltd
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8115407/ https://ncbi.nlm.nih.gov/pubmed/33913437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0145 |
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