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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Vydáno v:Endocrinol Diabetes Metab Case Rep
Hlavní autoři: Wakabayashi, Tetsuji, Takei, Akihito, Okada, Nobukazu, Shinohara, Miki, Takahashi, Manabu, Nagashima, Shuichi, Okada, Kenta, Ebihara, Ken, Ishibashi, Shun
Médium: Artigo
Jazyk:Inglês
Vydáno: Bioscientifica Ltd 2021
Témata:
Unique/Unexpected Symptoms or Presentations of a Disease
On-line přístup: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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